Détail du congrès:
Congrès: 4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) (9-13 mai 2011)
Commentaire :
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Documents disponibles provenant de ce congrès (480)
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Siala O ; Fakhfakh F | 2011In our study, we analysed the colocalisation of exonic SNPs in LAMA2 gene related to the MDC1A form of congenital muscular dystrophy with exonic splicing enhancers (ESEs). Then, we searched the effect of allelic change on ESEs efficacy. The LAMA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pryadkina M ; Bourg N ; Lostal W ; Roche J ; Bloch R ; Borel P ; Stockholm D ; Richard I | AFM-TELETHON | 2011Deficiencies in dysferlin (DYSF) are responsible for two main progressive muscular dystrophies: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). This transmembrane protein was shown to play a role in the repair of the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanisch F ; Hensel O ; Bock K ; Stoltenburg G ; Weis J ; Zierz S | AFM-TELETHON | 2011Background: Animal models and histopathological findings show glycogen accumulation and vacuolation in smooth muscles of the vessels in glycogenosis type II (Pompe disease). Several case reports had described cerebrovascular complications due to[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Renna LV ; Cardani R ; Malatesta M ; Giagnacovo M ; Pellicciari C ; Meola G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac dysfunctions, cataracts and insulin-resistance. One form of the disorder[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sitzia C ; Farini A ; Navarro C ; D'Antona G ; Belicchi M ; Parolini D ; Bottinelli R ; Meregalli M ; Torrente Y | AFM-TELETHON | 2011Limb Girdle Muscular Dystrophies (LGMDs) are a group of muscular diseases characterized by predominant weakness and wasting of muscles of the pelvic and shoulder girdle. LGMD-2B and MM were found to arise from defects in the dysferlin gene. In L[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Basco D ; Nicchia GP ; D’Alessandro A ; Zolla L ; Svelto M ; Frigeri A | 2011Aquaporin-4 (AQP4) is a water channel expressed at the sarcolemma of fast-twitch skeletal muscle fibers, whose expression is altered in several forms of muscular dystrophies. However, little is known concerning the physiological role of AQP4 in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Barthelemy I ; Barrey E ; Aguilar P ; Uriarte A ; Le Chevoir M ; Thibaud JL ; Voit T ; Blot S ; Hogrel JY | 2011Because of its clinical similarities with Duchenne muscular dystrophy, the GRMD (Golden Retriever Muscular Dystrophy) model is used in pre-clinical trials to assess functional effects, notably on locomotion. Accelerometry has been validated as a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mondielli G ; Conrod S ; Debarnot C ; Bougis P ; Bourne Y ; Marchot P | AFM-TELETHON | 2011Acetylcholinesterase (AChE) rapidly hydrolyzes the neurotransmitter ACh at central and peripheral synapses to restore the excitability of the postsynaptic membrane of neurons and muscles. AChE inhibitors are used to attenuate the cognitive or fu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Béré E ; Benoit M ; Vissière D ; Duchêne J ; Hogrel JY ; Servais L | 2011There is currently no standardized method to assess upper limb activity in non-ambulatory patients. Actimetry, with use of motion sensors, are probably the most promising method. Indeed, it provides continuous monitoring of specific part of body[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Neal A ; Boldrin L ; Morgan J | AFM-TELETHON | 2011Satellite Cells (SCs) are defined by their anatomical location between the sarcolemma and the basal lamina of muscle fibres. Evidence suggests that only a subpopulation of SCs function as muscle stem cells. Here we demonstrate that the number of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kaminsky P ; Poussel M ; Pruna L ; Chenuel B ; Brembilla-Perrot B | AFM-TELETHON | 2011Objective: The aim of the study was to identify, in addition to conduction defects, possible predictors of cardiac events and death in patients with myotonic dystrophy (DM1). Methods and design: A retrospective observational cohort study was und[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Marion P ; Petrof BJ ; Coisy-Quivy M ; Koechlin-Ramonatxo C ; Hugon G ; Lacampagne A ; Matecki S | 2011Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disorder, affecting 1 in 3500 male births. Skeletal muscle lacking dystrophin exhibit mitochondrial function abnormalities, including a reduced capacity for oxidative phosphorylation (E[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vauchez K ; Catelain C ; Marolleau JP ; Schmid M ; Chapel A ; Khattar P ; Lecourt S ; Larghero J ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Human skeletal muscle is an essential source of cellular progenitors with potential therapeutic perspectives deserving further identification and characterization. Aldehyde dehydrogenase type 1A1 (ALDH) belongs to a large family of enzymes invol[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; García-Melero A ; Lopez-Alemany R ; Roig-Borrellas A ; Puigivila M ; Barrère-Lemaire S | 2011Acute Myocardial Infarction causes cardiomyocytes cell death in the ischemic ventricle, followed by a wound healing response, which includes migration of inflammatory cells into the affected myocardium, extracellular matrix degradation, fibrobla[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaillou T ; Koulmann N ; Simler N ; Meunier A ; Gregoire C ; Chapot R ; Serrurier B ; Beaudry M ; Bigard X | AFM-TELETHON | 2011IntroductionSkeletal muscle is susceptible to injury after either direct trauma, prolonged physical exercise including eccentric contractions, or resulting from indirect causessuch as neuromuscular diseases. A delay in the muscle regeneration pr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Piccoli M ; Franzin C ; Bertin E ; Repele A ; Blauuw B ; Urbani L ; André-Schmutz I ; Melki J ; Cavazzana-Calvo M ; Pozzobon M | AFM-TELETHON | 2011Mutations of the survival of motor neuron gene (SMN1) are responsible for Spinal Muscular Atrophy (SMA), a fatal neuromuscular disorder. Mice carrying homozygous deletion of Smn exon 7 directed to skeletal muscle (HSA-Cre, SmnF7/F7 mice), presen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Simon J ; Krahn M ; Schaeffer S ; Landemore G ; Romero NB ; Leturcq F ; Françoise C | AFM-TELETHON | 2011A woman, born in 1962, with personal history of lombar pains and left sciatica in 2007 but without familial history, presented suddenly in 2007 pains in her left calf. CK were elevated (normal X 4). Myalgias with muscle-stiffness progressively e[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Escobar Cedillo RE ; Fernandez MI ; Hernandez-Hernandez O ; Cisneros B ; Magana J | 2011Myotonic dystrophy type 1 (DM1), the most common form of muscular dystrophy in adults (1/8,000 individuals), is an inherited, autosomal dominant disease characterizedmainly by myotonia, progressive muscle weakness (especially of distal limbs, ne[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yamina S ; Karima S ; Nouredine A ; Cherifa B ; Abdemadjid H | AFM-TELETHON | 2011Introduction Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1/10,000 newborns. It is divided into acute Werdnig-Hoffmann disease (type I), intermediate form (type II), Kugelberg-Wel[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bertazzi D ; Laporte J ; Payrastre B ; Friant S | 2011Myotubularin MTM1 is a phosphoinositide 3-phosphatase with specificity towards PtdIns3P (Phosphatidylinositol 3-Phosphate) and PtdIns(3,5)P2 (Phosphatidylinositol3,5-bisPhosphate). Different mutations in the MTM1 gene cause a severe congenital m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarkozy A ; Hicks D ; Hudson J ; Krause S ; Walter M ; Rufibach L ; Hwang E ; Illa I ; Van der Bergh P ; Bashir R ; Besnier-Penisson I ; Laval S ; Straub V ; Lochmuller H ; Bushby K | AFM-TELETHON | 2011Recessive mutations in the ANO5 gene cause limb girdle muscular dystrophy type 2L (LGMD2L). Patients with ANO5 mutations present with a pattern of proximal weakness affecting predominantly the pelvic girdle and leg muscles, associated with a les[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joshi P ; Glaser D ; Hanisch F ; Stoltenburg G ; Zierz S ; Deschauer M | AFM-TELETHON | 2011Recessive mutations in the Anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal myopathy type Miyoshi. Molecular genetic testing is necessary to detect patients with anoctamino[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Thibaud JL ; Naulet T ; Monnet A ; Blot S ; Carlier PG | 2011Altered ratios of phosphate metabolites, observed in 31P NMR spectroscopy (NMRS) of Duchenne patients, were recognized as potential markers of disease years ago1. The increase of therapeutic trials in DMD and in its closest model, the GRMD dog, [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hoen P ; Kemaladewi D ; van Heiningen S ; Aartsma Rus A ; van Ommen GJ ; Ten Dijke P ; Hoogaars W | 2011Myostatin and Transforming Growth Factor (TGF)-beta play important roles in regulation of muscle differentiation and fibrosis, and are emerging as attractive therapeutic targets in the treatment of Duchenne Muscular Dystrophy (DMD). We specifica[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gallais B ; Montreuil M ; Gargiulo M ; Eymard B | AFM-TELETHON | 2011OBJECTIVES: The aim of this study was to identify apathy levels, and to discuss the association of this condition with mood disturbances and neuropsychological manifestations in patients with Myotonic Dystrophy Type-1 (DM1).METHOD: we assessed 3[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yu H ; Voisin V ; Vianello S ; He X | 2011A potential strategy to treat Duchenne muscular dystrophy (DMD) is to compensate the absence of dystrophin by up-regulation of the homologous protein, utrophin. An approach to up-regulate utrophin expression and improve dystrophic phenotype in d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; Khau Van Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Spanning more than 2Mb on Xp21.1-p21.2, the DMD gene is the largest known with a complex mutational spectrum. Around 70% of the mutations are large deletions and duplications, the remaining being point mutations and small lesions. Most of the cu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Puttini S ; van Zwieten R ; Malgorzata L ; Kulik AJ ; Brune H ; Lobrinus A ; Dunand M ; Dietler G ; Kuntzer T ; Mermod N | 2011The diagnosis of muscular diseases, or the assessment of the functional benefit of gene or cell therapies, often remains difficult. Duchenne muscular dystrophy results from the lack of dystrophin. This protein mediates part of a physical link be[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chelh I ; Delavaud A ; Gentes G ; Picard B ; Cassar-Malek I | 2011Myostatin (MSTN), a member of the TGF-_ family, is involved in muscle development and the maintenance of muscle mass homeostasis. We recently identified severalgenes and proteins, which are involved in the protection of cells against apoptosis t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hammaren E ; Kjellby-Wendt G ; Lindberg C | AFM-TELETHON | 2011Objective: The aim of this study was to map balance and gait deficits in relation to muscle strength, stumbles and falls. Methods: All adult walking individuals with classical or late-onset genetically proven DM1 between 20-60 years of age were [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bierinx AS ; Cochon L ; Bastide B | 2011Satellite cells are the unique cell population able to incorporate myofibres in order to insure muscular growth and hypertrophy mechanisms. Decrease of their number or alteration of their capacities to proliferate and differentiate may strongly [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Köster D ; Blouin C ; Sinha B ; Bigot A ; Butler Browne G ; Nassoy P ; Lamaze C | AFM-TELETHON | 2011Caveolae, the characteristic plasma membrane invaginations present in many cells, have been associated with numerous functions that still remain debated. The particular abundance of caveolae in cells experiencing mechanical stress led us to inve[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; François V ; Le Guiner C ; Montus M ; Servais L ; Cherel Y ; Fromes Y ; Voit T ; Moullier P | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schirwis E ; Mousiel E ; Alonso-Martin S ; Beley C ; Precigout G ; Garcia L ; Relaix F ; Amthor H | AFM-TELETHON | 2011Bone Morphogenetic Proteins (BMPs), a subfamily of signaling molecules of the TGF-beta family, and their antagonist Noggin regulate embryonic and fetal muscle growth. Moreover, a recent in-vitro study demonstrated that the signaling system BMP/N[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sternberg D ; Chevessier F ; Bassez G ; Behin A ; Echaniz-Laguna JA ; Eymard B ; Franques J ; Pereon Y ; Vicart S ; Hantaï D ; Fournier E | AFM-TELETHON | 2011Exercise-induced muscle stiffness occuring since childhood can be due to a genetic muscle excitability disorder. Electromyographic (EMG) examination allows to distinguish between non-dystophic myotonias (NDM, with typical myotonic bursts) and an[...]Article
Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Goicoechea M ; Garcia Bragado F ; Otaegui D ; Aiastui A ; Pastoriza N ; Toral I ; Lopez de Munain Arregui A | 2011Statins represent the main therapeutic class of lipid-lowering drugs which are generally well tolerated although side effects may arise in skeletal muscle. The lipophilicstatin cerivastatin has been used to investigate the development of statin-[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bernard N ; Moumen A ; Raoul C ; Pettmann B | 2011Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease targeting motoneurons and leading to muscle atrophy and death. The most common familial form and best characterized mouse model of ALS are linked to mutations in the superoxide d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brignol TN | AFM-TELETHON | 2011Introduction Double blind randomization in rare neuromuscular diseases is extremely difficult to conduct, particularly if the tested "drug" has to be blind in design and to be compared to a placebo or a standard treatment which does not exist ye[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cattin ME ; Vignier N ; Carpentier W ; Cagnard N ; Bonne G | 2011Lamin A and C, encoded by LMNA gene, localize at the inner face of the nuclear membrane and interact with many proteins and DNA. Mutations reported all along the LMNA gene are responsible for multiple diseases including Emery-Dreifuss muscular d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mikaouar-Rebai E ; Chamkha I ; Fendri-Kriaa N ; Kammoun T ; Chabchoub I ; Aloulou H ; Hachicha M ; Fakhfakh F | 2011Mitochondrial cytopathies are a group of multi-systemic diseases exhibiting biochemical, histological and/or genetic evidence of mitochondrial dysfunction. These diseases include syndromes caused by molecular defects in mitochondrial DNA (mtDNA)[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vlodavets D ; Kharlamov D ; Sukhorukov V ; Belousova E ; Zhdanova E | 2011In our every day clinical practice we are frequently seeing the patients in whom the diagnosis of DMD is delayed. There are objective and subjective reasons for misdiagnosis. Early infantile form of DMD resembles the psycho-motor delay, that usu[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011The McArdle s disease (GSD V, MIM#232600) is the most common autosomal recessive disorder of glycogen metabolism. There are several mutations in the myophosphorylase gene (PYGM, MIM#608455). There is a clinical heterogeneity, with a wide clinica[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pinto Mariz F ; Carvalho L ; Araujo A ; de Mello W ; Ribeiro M ; Cunha MDC ; Riederer I ; Negroni E ; Mouly V ; Voit T ; Desguerre I ; Butler Browne G ; Savino W ; Silva-Barbosa SD | 2011Background. Duchenne muscular dystrophy (DMD) affects 1:3,500 male births, and is caused by mutations in the dystrophin gene. Even though the genetic mutation results in decreased resistance of muscle fibers, the immune response may contribute t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joanne P ; Chourbagi O ; Menny A ; Agbulut O | 2011Desminopathy is a clinically and genetically heterogeneous group of sporadic and familial skeletal and cardiac muscular disorders with a common morphological phenotype (Goldfarb et al., 2004; Paulin et al., 2004). Little is known about the patho[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Durieux AC ; Vassilopoulos S ; Laine J ; Fraysse B ; Prudhon B ; Freyssenet D ; Bonne G ; Guicheney P ; Bitoun M | 2011Dynamin 2 (DNM2) is involved in endocytosis and intracellular membrane trafficking through its function in vesicle formation and release from distinct membrane compartments. Mutations in the DNM2 gene cause autosomal dominant centronuclear myopa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dumonceaux J ; Bartoli M ; Mariot V ; Vovard F ; Whalen S ; Ferreboeuf M ; Mamchaoui K ; Mouly V ; Helmbacher F ; Butler-Browne GS | 2011Facioscapulohumeral dystrophy (FSHD) is a human myopathy characterized by a progressive decrease in muscle mass and weakness in facial, upper arm, shoulder girdle and lower limb muscles, these symptoms frequently showing a right/left asymmetry. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chiron S ; Tomczak C ; Laine J ; Coirault C | 2011Rationale: Engineered muscle tissue (EMT) from human cells may provide advanced in vitro models for drug testing and for pathophysiological analysis of musculardisorders. 3D cultures allow cell-cell and cell-extracellular matrix (ECM) interactio[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ramachandran U ; Marlow G ; Barresi R ; Mahjneh I ; Bashir R | 2011The ANO5 gene is mutated in LGMD2L and a non-dysferlin Miyoshi myopathy, MMD3. Recessive ANO5 mutations are associated with sarcolemmal lesions and defective membrane repair. In European patients the ANO5 mutation, c.191dupA, is present in both [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Marechal X ; Villoutreix B ; Vidal J ; Miuzzo M ; Bianchini E ; Sandona D ; Betto R ; Reboud-Ravaux M | 2011The majority of sarcoglycanopathies are associated with missense mutations in each of the four sarcoglycans (a, b, g and d) that mainly generate misfolded proteins.These are identified by the endoplasmic reticulum quality control system and elim[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Matsuo M ; Nishida A | 2011Duchenne muscular dystrophy (DMD) is the most common and fatal muscle wasting disease caused by a loss of dystrophin protein. Currently, no effective treatmentfor DMD is available. One of the major therapeutic approaches is to convert from sever[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Portilho D ; Mendes F ; Costa M ; Butler Browne G ; Garcia J ; Savino W ; Mermelstein C | AFM-TELETHON | 2011Skeletal muscle differentiation is a multi-step process that begins with the commitment of mononucleated precursors that withdraw from cell cycle. These myoblasts elongate while aligning to each other, guided by the recognition between their mem[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Su JB ; Cazorla O ; Blot S ; Ait Mou Y ; Blanchard-Gutton N ; Barthelemy I ; Sambin L ; Carlos Sampedranos C ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Lacampagne A ; Chetboul V ; Hittinger L | 2011Mutations in dystrophin gene result in loss of dystrophin protein in striated muscles leading to Duchenne muscular dystrophy (DMD) that remains an untreatable disease.Similarly, due to a mutation of the dystrophin gene leading to loss of the pro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dabiré H ; Barthelemy I ; Blanchard-Gutton N ; Sambin L ; Sampedranos CC ; Gouni V ; Unterfinger Y ; Aguilar P ; Thibaud JL ; Ghaleh B ; Bizé A ; Pouchelon JL ; Berdeaux A ; Blot S ; Chetboul V ; Hittinger L ; Su JB | 2011Mutations in the gene encoding dystrophin cause X-linked Duchenne muscular dystrophy (DMD) characterized by progressive muscle weakness and respiratory or cardiac failure. In golden retriever dogs, a mutation in dystrophin gene leads to golden r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yada E ; Pinto-Mariz F ; Negroni E ; Barthelemy I ; Blot S ; Savino W ; Voit T ; Mouly V ; Butler-Browne GS | 2011Duchenne muscular dystrophy (DMD) is an X-linked muscle wasting disease caused by the absence of functional dystrophin at the sarcolemma. There is currently no therapy for this disease, but stem cell-based cell therapy, eventually in combination[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lusakowska A ; Sulek-Piatkowska A ; Gogol A | AFM-TELETHON | 2011SBMA is rare, adult onset, X-linked recessive disease caused by CAG repeat expansion in AR gene. The main symptoms due to lower motor neuron involvement comprise slowly progressive weakness of extremity and bulbar muscles, fasciculation, cramps [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Guglieri M ; Al-raqad M ; Chaouch A ; Eagle M ; Bourke J ; Straub V ; Lochmuller H ; Bushby K | 2011It has previously been reported that about 8% of female carriers of Duchenne and Becker muscular dystrophy (DMD/BMD) present clinical signs of the condition. Wefollowed a cohort of genetically confirmed DMD/BMD manifesting carriers at the Newcas[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lescroart F ; Hamou W ; Meilhac S ; Le Garrec JF ; Nicolas JF ; Buckingham M | 2011Despite the fact that cardiac and skeletal muscles are structurally and functionally distinct, we show that a subset of skeletal muscles share common progenitors with the heart.It is established that somitic mesoderm is not the only source of sk[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Arnaud E ; Zenker J ; de Preux Charles AS ; Stende C ; Roos A ; Médard JJ ; Tricaud N ; Weis J ; Suterc U ; Senderek J ; Crast R | 2011Neuromuscular disorders represent a relatively heterogeneous group of diseases affecting muscle function either directly (myopathies), or indirectly via nerve (neuropathies) or neuromuscular junction dysfunctions. Peripheral neuropathies, which [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Morbidoni V ; Urciuolo A ; Grumati P ; Cescon M ; Bonaldo P | 2011Collagen VI (ColVI) is an extracellular matrix protein composed by three chains (alpha1, alpha2 and alpha3), encoded by separate genes and forming a microfilamentous network in various tissues. ColVI is particularly abundant in skeletal muscles,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ruggiero F ; Charvet B ; Bader H ; Allard B ; Malbouyres M ; Monnot C ; Koch M | 2011An increasing number of muscular dystrophies have been linked to mutations in genes of extracellular matrix components. Collagen XXII is a marker of the myotendinousjunction but its function has not been investigated. We took advantage of the ze[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joubert R ; Jamet T ; Poulard K ; Guerchet N ; Tanniou G ; Relizani K ; Mandel JL ; Buj Bello A | 2011Myotubular myopathy (XLMTM) is a severe congenital disease that affects skeletal musculature, which is characterized by the presence of small myofibres with frequent occurrence of central nuclei. The disease is due to mutations in the MTM1 gene,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gineste C ; De Winter J ; Le Fur Y ; Pecchi E ; Vilmen C ; Cozzone PJ ; Granzier H ; Labeit S ; Ottenheijm O ; Go,din J ; Bendahan D | 2011INTRODUCTION: Nebulin is a giant protein expressed in skeletal muscle which plays a major role in both the organization of the sarcomeric structure and the regulation of cross-bridge cycling kinetics2,5. Indeed, reduced force production and calc[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Rumeur E ; Legrand B ; Giudice E ; Nicolas A ; Delalande O | 2011Duchenne muscular dystrophy (DMD) is caused by the genetic deficit of dystrophin, a large cytoskeleton protein of skeletal muscle included in the DGC sarcolemmalcomplex. Dystrophin complete deficit in DMD leads to cell degeneration induced by fr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Girard E ; Colak O ; Petrov K ; Krejci E | 2011Congenital myasthenic syndromes are characterized by muscle weakness during exercice. The mutations affects key events of the synaptic transmission but the consequence on the muscle contraction and the pathophysiology are poorly understood. Inde[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gulati S ; Sharma MC ; Yoganathan S ; Sarkar C | 2011Background: Congenital myopathies are a group of neuromuscular disorders, mostly occurring in childhood, chiefly in a familial fashion but occasionally occur in sporadic fashion. Through this paper, the authors present a clinicopathological anal[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Li Z ; Agbulut O ; Martins S ; Ferry A ; Hourde C ; Gao-Li J ; Blanc J ; Paulin D ; Xue Z | 2011Synemin is a linker protein, which form heteropolymer intermediate filaments with vimentin, desmin in the muscle or with neurofilaments, peripherins or GFAP in the nervous system. The synemin gene gives rise to three isoforms (H 180, M 150, L 41[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Blazquez L ; Aiastui A ; Pastoriza N ; Cano A ; Avril A ; Garcia L ; Lopez de Munain Arregui A | 2011Last years several mutations that can be corrected by the exon-skipping technique have been described in Duchenne dystrophy. In LGMD2A, however, all the mutations described to date do not seem to be good candidates for the RNA reparation technol[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Salort-Campana E ; Nguyen K ; Bernard R ; Sole G ; Niederhauser J ; Jouve E ; Fourquet I ; Fabre E ; Ollagnon E ; Sacconi S ; Echaniz-Laguna JA ; Duvocelle A ; Vial C ; Arne-Bes MC ; Desnuelle C ; Tranchant C ; Kuntzer T ; Ferrer X ; Besnier-Penisson I ; Pouget J ; Attarian S | AFM-TELETHON | 2011BACKGROUNDFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with contraction of the subtelomeric D4Z4 repeat array on chromosome 4q.Two allelic variations of 4qter have been described. These variations, 4[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ishmukhametova A ; KhauVan Kien P ; Thorel D ; Méchin D ; Vincent MC ; Humbertclaude V ; Tuffery-Giraud S ; Claustres M | 2011Background. Among the large rearrangements in the DMD gene, the predicted out-of-frame deletions and duplications of the exons 3 to 7 (del/dup3-7) present mainly twoparticular features in the widest DMD gene specific databases (www.dmd.nl: 150 d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sacconi S ; Féasson L ; Antoine JC ; Pêcheux C ; Bernard R ; Cobo AM ; Casarin A ; Salviati L ; Desnuelle C ; Urtizberea JA | 2011Mutations in the CRYAB gene, encoding _B-crystallin, cause distinct clinical phenotypes including isolated posterior polar cataract, myofibrillar myopathy, cardiomyopathy, or a multisystemic disorder combining all these features. Genotype/phenot[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Davignon L ; Cowling B ; Koutsopoulos O ; Zivkovic I ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stricker S ; Kossler N ; Mundlos S ; Kolanczyk M | 2011Neurofibromatosis type I (NF1) is an inheritable disease caused by mutations in the NF1 gene encoding a Ras-GAP protein that negatively regulates Ras signalling.Besides neuroectodermal malformations and tumours, the skeletal system is often affe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Morgane G ; Antoine M ; Camille L ; Cecile M ; Marc P ; Remi V | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that provokes functional alteration of CUG-binding proteins. Accordingly, several genes with misregulated alternate splicing of pre-mRNA have[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hnia K ; Amoasii L ; Tronchere H ; Tomczak K ; Schultz P ; Beggs AH ; Payrastre B ; Mandel JL ; Laporte J | 2011Centronuclear myopathies (CNM) are congenital myopathies characterized by an abnormal central localization of the nuclei in skeletal muscle fibres associated with a generalized muscle weakness and atrophy. The X-linked, also named myotubular myo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bangratz M ; Sarrazin N ; Davoine CS ; Fontaine B ; Devaux J ; Nicole S | AFM-TELETHON | 2011Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by permanent muscle stiffness and spontaneous activity in the rest electromyogram that appears during childhood and slowly progress until adulthood. SJS results from hypomorphi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Agbulut O ; Chourbagi O ; Xue Z ; Paulin D | AFM-TELETHON | 2011Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Moraux A ; Costiou P ; Moullec S ; Servais L ; Le Guiner C ; Montus M ; Moullier P ; Fromes Y ; Voit T | AFM-TELETHON | 2011Golden Retriever Muscular Dystrophy (GRMD) is a very suitable animal model related to dystrophin deficiency. The phenotype of dogs is very close to the disease pattern in humans. Innovative therapies are thus being tested on dogs before a transf[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Erratico S ; Belicchi M ; Razini P ; Farini A ; Meregalli M ; Villa C ; Bresolin N ; Torrente Y | 2011Adult stem cells reside in all tissues, where they maintain homeostatic conditions and respond to injuries. These cells are regulated and supported by the surrounding microenvironment, called stem cell "niche", composed by cellular and molecular[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Canal A ; Ollivier G ; Decostre V ; Josserand E ; Alberti C ; Taoui I ; Simon D | AFM-TELETHON | 2011Unless neuromuscular maturation during growth is a key element, it has been poorly documented with respect to the biological development of children. The strength generation capacity of the muscles is one of the main maturation features. Most of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Beley C ; Gruszczynski C ; Ziaei S ; Griffith G ; Precigout G ; Vulin A ; Dreyfus P ; Voit T ; Garcia L | 2011The analysis of DMD/BMD databases, which include patient records have allowed to assess the proportion of DMD patients that is eligible for exon skipping strategies as well as to appraise the impact of various exon skipping events. Among them, t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Boyer F ; Barbe C ; Calmus A ; Reveillere C ; Hardouin JB ; Tiffreau V ; Richard I ; Rohellec EL ; Bassez G ; Minh-Muzeaux S ; Novella JL ; Wolak A ; Drame M ; Pereon Y ; Morrone I ; Jolly D | 2011Health related quality of life (HRQoL) measures estimate interventions in health efficiency.This paper reports the first indispensable phase for the construction and validation of a HRQoL measure in patients with slowly neuromuscular disease (NM[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jaspers R ; Testerink J ; Krishnan R ; Offringa C ; Bagowski C ; Van der Laarse W | 2011In vivo immobilization of muscle at extended length, stimulates IGF-1 expression and induces hypertrophy, however, the mechanisms underlying the high muscle strain induced IGF-1 expression and hypertrophy are unknown. The aim of this study was t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cassar-Malek I ; Delavaud A ; Gentes G ; Picard B | 2011In a previous study, we have identified the canonical Wnt signaling pathway as a putative target for inactivation of myostatin (MSTN) in mice. Here1 we have analysed the Mouse WNT signaling pathway in MSTN-null vs wild-type mice (n=5 animals/gro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dibenedetto S ; Cluet D ; Drouin E ; Thomas JL ; Gangloff YG ; Schaeffer L ; Zoli M ; Rudkin B ; Ciciliot S ; Ding YD ; Yuan CG ; Schiaffino S | 2011Calcineurin A(CnA), a serine-threonine phosphatase, has been identified as a crucial mediator for reversing muscle degeneration due to its role in the control of satellite cell differentiation as well as myofiber growth and maturation. This has [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sandell S ; Palmio J ; Udd B ; Mahjneh I | AFM-TELETHON | 2011We have previously reported clinical, neuropathological and genetic findings in a large Finnish family with 7q36-associated autosomal dominant myopathy classified now as LGMD1D. After publishing we have discovered four more Finnish families with[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Scaal M | AFM-TELETHON | 2011The dermomyotome is the dorsal compartment of the somite which gives rise to multiple cell fates including skeletal muscle, connective tissue, and endothelia. It consists of a pseudostratified, roughly rectangular epithelial sheet, the margins o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n repeat expansion in the first intron of ZNF9 gene. The smallest reported expansion in leucocyte DNA with clinical phenotype consists of (CCTG)75 repeats. The repeat region is complex with bo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Medja F ; Huguet A ; Vignaud A ; Ferry A ; Etienne M ; Butler Browne G ; Puymirat J ; Gourdon G ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type I (DM1) is a dominant disease caused by the expansion of an unstable CTG repeat in the 3' non-coding region of the DMPK gene. Transgenic mice carrying 45kb of the human DM1 locus with 300 CTG repeats were developed by G. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bartoli M ; Delague V ; Bourgeois P ; Krahn M ; Cossee M ; Orrhant L ; Leturcq F ; Chelly J ; Guittard C ; Beroud C ; Allamand V ; Bonne G ; Nelson I ; Richard P ; Voit T | 2011Currently, in most laboratories, molecular explorations in neuromuscular disorders (NMDs) are based on a differential molecular genotyping by a complex and time consuming gene by gene approach. As a consequence, it is estimated that 35-50 % of p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mohamed Ismail H ; Petterman O ; Dorchies O ; Ruegg U | AFM-TELETHON | 2011Duchenne muscular dystrophy (DMD) is a progressive disease characterized by the absence of dystrophin due to a defect in the p21 band of the X chromosome. Lack of dystrophin expression causes muscle degeneration by a mechanism that remains elusi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lenglet T ; Stojkovic T ; Maisonobe T ; Kolev I ; Wardi R ; Vicart S ; Dubourg O ; Pradat PF | 2011Objective : To report a case of Dropped Head Syndrome (DHS) with initial presentation suggestive of amyotrophic lateral sclerosis (ALS) and that led to the diagnosis of Centronuclear Myopathy (CM).Background : Isolated or prominent weakness of c[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Biondi O ; Villemeur M ; Marchand A ; Chrétien F ; Bourg N ; Gherardi RK ; Richard I ; Authier FJ | AFM-TELETHON | 2011Dysferlinopathies are inherited myopathies characterized by a deficiency in dysferlin, a protein involved in plasma membrane repair process. Various clinical phenotypes/ modes of presentation are described, including LGMD2B, Myoshi-type distal m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Xue Z ; Martins S ; Agbulut O ; Larcher JC ; Paulin D ; Li Z | AFM-TELETHON | 2011The mammalian synemin is a very unique intermediate filament (IF) gene encoding three isoforms (H, M and L) achieved by alternative mRNA splicing, exon skipping and an open reading frame shift. Synemin is a desmin-related myopathies (DRM)-associ[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Di Fulvio S ; Azakir B ; Sinnreich M | AFM-TELETHON | 2011Mutations in the dysferlin gene lead to limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi Myopathy and distal anterior compartment myopathy. Dysferlin is a large type II transmembrane protein composed of seven C2 domains and two dysferlin[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Carinne R ; Lostal W ; Bartoli M ; Bourg N ; Krahn M ; Pryadkina M ; Borel P ; Suel L ; Roche J ; Stockholm D ; Bloch R ; Bashir R ; Richard I | 2011Carinne Roudaut1, William Lostal1, Marc Bartoli4, Nathalie Bourg1, Martin Krahn4, Marina Pryadkina1, Perrine Borel1, Laurence Suel1, Joseph Roche2, Daniel Stockholm1 Robert Bloch2, Nicolas Levy4, Rumaisa Bashir3, Isabelle Richard11) Genethon, CN[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cardani R ; Greco S ; Sarra-Ferraris G ; Bugiardini E ; Meola G ; Martelli F | 2011Myotonic dystrophy type 1(DM1) is a dominantly inherited multisystemic disorder affecting skeletal muscle, heart, eye, and the endocrine system. DM1 is caused by expansion of a CTG repeat in the 3'UTR of DMPK gene. This genetic lesion leads to t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Moore C ; Mitchell A ; La Riviere T ; Lipscombe L ; Piggott R ; Parkin C ; Miller G ; Winder S | 2011Dystroglycan (DG) is a transmembrane glycoprotein, which in skeletal muscle forms a central role in the dystrophin-associated glycoprotein complex (DGC). Thiscomplex links dystrophin to the extracellular matrix, helping to provide stability to m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cherel Y ; Larcher T ; François V ; Le Guiner C ; Deschamps JY ; Guigand L ; Dutilleul M ; Betti E ; Montus M ; Servais L ; Voit T ; Moullier P | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mercier S ; Toussaint A ; Beugnet C ; De Barace C ; Toutain A ; Raynaud M ; Marcorelles P ; Pasquier L ; Chauvel-Lebreton J ; Benyaou R ; France L ; Chelly J ; Desguerre I | 2011Aim: to define molecular basis underlying different clinical phenotypes and of symptomatic DMD carriers at pediatric age.Methods: 26 cases of early symptomatic DMDcarriers followed in the french neuromuscular network were investigated. We report[...]Article
Early left ventricular dysfunction revealed in GRMD dogs bypost-processing of cine flash NMR imaging
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gilles R ; Thibaud JL ; Toussaint M ; Blot S ; Carlier PG | 2011Background. Duchenne muscular dystrophy (DMD) due to dystrophin deficiency leads to death by heart failure in nearly 30% of cases. An early detection of myocardial abnormalities in these patients would help in the optimization of their managemen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fayssoil A ; Nardi O ; Orlikowski D ; Pellegrini N ; Annane D | AFM-TELETHON | 2011Background :Alpha sarcoglycanopathy ( LGMD 2D) and gamma Sarcoglycanopathy (LGMD 2C) are autosomic recessive muscle diseases (myopathies), secondary to mutations of the sarcoglycan complex. This complex consists of four transmembrane proteins(al[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nicolas A ; Lucchetti-Miganeh C ; Barloy-Hubler F ; Le Rumeur E | 2011Dystrophin, encoded by the largest DMD human gene, is a sarcolemmal protein that is ubiquiterious and found predominantly in muscle and nervous cells. Dystrophin iscomposed of 3685 residues and is constituted by various structural regions. The l[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Krasilnikova J ; Telysheva G ; Dizhbite T ; Bikovens O ; Sheibak V ; Ostrovskaja O ; Hulten L | 2011Myopathology has dysmetabolic and inflammatory disorders in pathogeneses incl. toxic cardiomyophathy and cardiomyophathy in the case of patients obesity. Plant originated products remain today an undiminished source of new pharmaceuticals. For t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; lionel T ; Martin M ; Cornille K ; Leibovitch S ; Charles V ; Resina S ; Maurel JC | 2011Over the last decade, the significant advances made in the understanding of the molecular mechanisms responsible for debilitating muscle loss lead us to envision new pharmaceutical approaches suitable for in vivo inhibition of putative therapeut[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vallejo Illarramendi A ; Toral I ; Ferron P ; Miranda JI ; Aizpurua JM ; Alberdi E ; Matute C ; Pastoriza N ; Lopez de Munain Arregui A | 2011Muscular dystrophies are characterized by the primary wasting of skeletal muscle, which compromises patient mobility and can lead to a complete paralysis and premature death. These diseases are among the most difficult to treat, since current ph[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dorchies O ; Gallo C ; Reutenauer-Patte J ; Ismail HM ; Gayi E ; Petermann O ; Patthey-Vuadens O | 2011Duchenne muscular dystrophy (DMD) is a fatal muscle disorder caused by the absence of dystrophin and characterized by progressive muscle wasting. Oxidative stress and excessive calcium influx are thought to contribute to the pathogenesis. Indeed[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Screen M ; Lehtimaki M ; Raheem O ; Laaksonen R ; Hackman P ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of the ZNF9 gene. This causes a toxic RNA-mediated gain-of-function which leads to aberrant mRNA processing through sequestration of RNA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pigozzo S ; Agostini J ; Wilton S ; Fletcher S ; Vitiello L | 2011Duchenne and Becker muscular dystrophy (DMD, BMD) are caused by mutations in the dystrophin gene. In general, DMD mutations disrupt the reading frame and leadto prematurely aborted dystrophin synthesis; conversely, mutations that leave the readi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Leroy M ; Darbellay B ; Bernheim L ; Konig S | AFM-TELETHON | 2011Our work focuses on the comprehension of the early steps of myoblast differentiation. The model we use consists of a human myoblast culture derived from satellite cells extracted from muscle biopsies. We previously showed that, to differentiate,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fritah A ; Steel JH ; Nichol D ; Parker N ; Williams S ; Price A ; Strauss L ; Ryder TA ; Mobberley MA ; Poutanen M ; Parker M ; White R | AFM-TELETHON | 2011The contractile function of the heart in early postnatal development and in adult is fuelled by ATP generated mainly from fatty acid oxidation in mitochondria. Because the heart has a limited capacity to store or synthesize fatty acids, cellular[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Catelain C ; Riveron S ; Mougenot N ; Jacquet A ; Papadopoulos A ; Vauchez K ; Bonne G ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Cardiac cell replacement has emerged as a potent new therapy by regenerating irreversibly damaged heart areas in the setting of heart failure. Cell therapy approaches have been extensively developed in the indication of ischemic infarction, but [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bugiardini E ; Passeri E ; Sansone V ; Ambrosi B ; Corbetta S ; Renna LV ; Cardani R ; Meola G | 2011DM1 and DM2 are progressive multisystem genetic disorders that share a similar pathogenetic mechanism and clinical manifestations. The endocrine features include insulin resistance and testicular failure. Some clinical studies showed how hypogon[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sicot G ; Bichara M ; Huguet A ; Nicole A ; Gerard C ; Sergeant N ; Gourdon G ; Gomes Pereira M | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is an autosomic dominant multisystemic disorder caused by the expansion of a non-coding CTG trinucleotide repeat in the DMPK gene. Although traditionally regarded[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gradolatto A ; Nazzal D ; Truffault F ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia gravis (MG) is a rare auto-immune disease that is often associated with thymic hyperplasia and inflammation. Inside the immune system, T cells have been shown to be impaired in MG patients. Indeed, even if numbers of T regulatory (Tre[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Skuk D | 2011Acute rejection of myofibers expressing alloantigens in nonhuman primates in which immunosuppression is not adequate is mainly driven by CD8+ and CD4+ lymphocytesthat focally accumulate to surround and invade these myofibers, which appear non-ne[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Carlier RY ; Canal A ; Duteil S ; Hogrel JY ; Laforet P ; Carlier PG ; Pénisson-Besnier I | AFM-TELETHON | 2011In late-onset acid-maltase deficiency (LO-GSDII), evolution is generally slow and complicates evaluation. We report the case of a 43yr-old woman, in whom NMRI evidenced localised but dramatic degradation of quadriceps muscles over a 3yr period, [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Charbonnier F ; Branchu J ; Biondi O ; Deforges S ; Sanchez G ; Coté J ; Chanoine C ; Lopes P ; Pariset P ; Lancelin C | 2011Spinal Muscular Atrophy (SMA), a lethal neurodegenerative disease which occurs in childhood, is due to the misexpression of the survival-motor-neuron (SMN) proteinin motor-neurons. We have evaluated the effect of a running-based training (Gronda[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rendu J ; Fourest-Lieuvin A ; Brocard J ; Buclez PO ; Beley C ; Monnier N ; Lunardi J ; Pietri Rouxel F ; Garcia L ; Marty I | 2011In skeletal muscles, the ryanodine receptor of type 1 (RyR1) is the calcium channel by which calcium is released from the Sarcoplasmic Reticulum to the cytoplasm. This step leads to the contraction of the striated muscle fiber. Therefore, RyR1 i[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gaëlle R ; Allard B | 2011In skeletal muscle, contraction is induced by a massive release of calcium from the sarcoplasmic reticulum (SR) in response to depolarization of the cell. Duringsustained depolarization, a voltage-activated calcium influx is also known to occur [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lacour A ; Amati-Bonneau P ; Reynier P ; Defoort-Dhellemmes S ; Vignal C ; Fribourg-Desi M ; Romero NB ; Maurage CA ; Jardel C ; Vermersch P ; Eymard B ; Stojkovic T | AFM-TELETHON | 2011Background:Extra-ocular neurological signs are frequent in autosomal dominant optic atrophy (ADOA) due to OPA1 mutations. However, time course and severity of this extra-ocular involvement can vary. Observations:We report three families with ADO[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pakula A ; Mahler A ; Schmidt S ; Luft F ; Spuler S ; Boschmann M | AFM-TELETHON | 2011Facioscapulohumeral Muscular Dystrophy, Glucose Metabolism and Insulin Resistance A. Pakula, A. Mer, S. Schmidt, F.C. Luft, S. Spuler, M. Boschmann Franz-Volhard- Centrum fr Klinische Forschung, Charitiversitmedizin Berlin, Deutschland Hypothesi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jansen M ; de Jong M ; van Alfen N ; De Groot I | 2011Background: Clinically relevant outcome measures are necessary to monitor disease progression and to evaluate treatments in boys with Duchenne Muscular Dystrophy(DMD). Endurance is related to functioning in daily life and is, therefore, a clinic[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Revillod L ; Christov C ; Gourdon G ; Furling D ; Puymirat J ; Gherardi RK ; Bassez G | AFM-TELETHON | 2011The myotonic dystrophies (DM) include DM1 (or Steinerts disease), caused by expansion of a CTG triplet repeat in the 3' UTR of the DM protein kinase (DMPK) gene, and DM2 (myotonic dystrophy type 2), caused by expansion of a CCTG tetranucleotide [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ben Yaou R ; Demay L ; Chikhaoui K ; Hamroun D ; Beroud C ; Richard P ; Bonne G | 2011In 1999, we reported the first LMNA gene mutations responsible for the autosomal forms of Emery-Dreifuss muscular dystrophy (EDMD), this gene encoding nuclear envelope proteins, the lamins A/C. Since then, a huge number of patients carrying LMNA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; L'Honoré A ; Montarras D ; Melki J ; Drouin J ; Buckingham M | AFM-TELETHON | 2011Pitx2 and Pitx3 genes are members of the Pitx gene family that encodes homeodomain transcription factors. Originally identified as important upstream regulators in the pituitary gland, Pitxs play a role in the formation of a number of tissues an[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Davidovic L ; Angeard Durand N ; Khalfallah O ; Bardoni B | 2011The Fragile X Mental Retardation-Related Protein 1 (FXR1P) is an RNA binding protein belonging to the Fragile X Related family, together with the Fragile X mentalRetardation Protein (FMRP). Seven alternatively spliced FXR1P isoforms have been id[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sanchez G ; Tadesse H ; Trinkle Mulcahy L ; Biondi O ; Charbonnier F ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is amongst the leading genetic causes of infant deaths and is characterized by specific degeneration and loss of spinal cord motoneurons. It is caused by the disruption of the "survival of motor neurons" gene (Smn1)[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Baron D ; Magot A ; Fayet G ; Houlgatte R ; Savagner F ; Pereon Y | 2011This study aimed to compare the skeletal muscle response at the transcriptional level in DMD and in Aging. DMD is a complex process involving multiple pathways downstream of the primary genetic insult leading to fatal muscle degeneration. Aging [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wojtowicz I ; Jagla T ; Jagla C ; Malgorzata D | 2011The gene lethal (2) essential for life (lefl), the Drosophiila orthologue of _B-crystallin involved in Desminopathies in human, codes for small heat shock protein wit chaperon activity. lefl is expressed during Drosophila development in embryoni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brown S ; Ackroyd M ; Whitmore C ; Ashraf A ; Muntoni F | 2011Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, including M[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sacconi S ; Camano P ; de Greef J ; Lemmers R ; Salviati L ; Boileau P ; Lopez de Munain Arregui A ; van der Maarel S ; Desnuelle C | AFM-TELETHON | 2011The aim of this study was to identify the genetic and epigenetic defects in patients presenting with a FSHD clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis (LGE) and Southern blot analysis. We[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zhou J ; Veillet J ; Tiziano FD ; Servidei S ; Bertini E ; Brahe C ; Durand ME ; Topaloglu H ; Melki J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by degeneration of lower motor neurons leading to progressive muscle paralysis. The most frequent form is linked to mutations of the SMN1 gene on C[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Voldoire E ; Godet E ; Chabault M ; Leroux S ; Jlali M ; Graulet B ; Pitel F ; Le Bihan Duval E ; Berri C ; Duclos M | AFM-TELETHON | 2011The enzyme beta, beta-carotene-15, 15'-monooxygenase, product of the BCMO-1 gene, is involved in the conversion of carotenoids into retinoids. We recently characterized a polymorphism in the putative promoter of the BCMO-1 gene, associated with [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nebigil-Desaubry C | 2011Prokineticins are potent angiogenic hormones that use 2 receptors, prokineticin receptor-1 (PKR1) and PKR2, with important therapeutic use in anticancer therapy. Observations of cardiac and renal toxicity in cancer patients treated with antiangi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jean-Louis F ; Dubois L ; Boukhatmi H ; deTaffin M ; Crozatier M ; Vincent A | AFM-TELETHON | 2011The diversity of human muscles is necessary to achieve proper coordinated movements. Each muscle displays a distinctive set of properties: size, shape, orientation, attachment sites to the skeleton and specific innervation. The fundamental quest[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Roux-Buisson N ; Santoni E ; Kyndt F ; Albuisson J ; Fauré J ; Lunardi J ; Pavin D ; Mabo P | 2011Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare familial arrhythmogenic disease, characterized by syncope or sudden death induced by emotional or physical stress. The mortality rate in untreated individuals ranges from 30 [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Michon CC ; Nadaj-Pakleza A ; Boneva N ; Payan C ; Gargiulo M ; Herson A ; Guichar-Gomez E ; Berthoux M ; Sarazin M ; Eymard B ; Labrune P ; Laforet P | AFM-TELETHON | 2011BACKGROUND. Glycogen storage disease type III (GSD III) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic affection including hepatic and myopathic symptoms. While frequent [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Argov Z | AFM-TELETHON | 2011The clinical and genetic features of hereditary inclusion body myopathy (HIBM)/ distal myopathy with rimmed vacuoles (DMRV), a disorder due to mutations in the Nacetylglucosamine epimerase/N-acetylmannosamine kinase (GNE) gene will be reviewed. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Strosova M ; Ruegg U ; Dorchies OM | AFM-TELETHON | 2011Green tea polyphenols (GTP) and their major compound epigallocatechin gallate (EGCG) are known for a wide range of health-promoting properties, such as antioxidant, anticancer, anti-inflammatory, antibacterial, antiviral, antifibrotic, hypolipid[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Berardinelli A ; Fagiolari G ; Vallejo D ; Lucchini V ; Bordoni A ; Lamperti C ; Ripolone M ; Corti S ; Balottin U ; Bresolin N ; Comi GP ; Sciacco M ; Moggio M | 2011Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of spinal cord anterior horn presenting with weakness and muscular atrophy. It is caused by mutations in SMN1 gene (Brahe C. 2001) and it is transmitted as a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cartaud J ; Cartaud A ; Stetzkowski-Marden F ; Maoui A | 2011Cholesterol/sphingolipid-rich membrane micro-domains or membrane rafts have been implicated in various aspects of receptor function such as receptor activation, trafficking and synaptic localization. More specifically in muscle, membrane rafts a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hubers L ; Valderrama-Carvajal H ; Laframboise J ; Sanchez G ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by disruption of the survival of motor neuron gene, SMN, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SM[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bencze M ; Negroni E ; Yacoub-Youssef H ; Chaouch S ; Wolff A ; Di Santo J ; Chazaud B ; Butler-Browne GS ; Savino W ; Mouly V ; Riederer I | 2011Cell therapy has been envisaged for some genetic muscular disorders using myoblasts in order to deliver the missing protein. Although pre-clinical trials in the mouse were promising, therapeutic trials using local injection of myoblasts failed t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Bihan MC ; Bigot A ; Jensen SS ; Dennis JL ; Rogowska-Wrzesinska A ; Laine J ; Gache V ; Furling D ; Jensen ON ; Voit T ; Mouly V ; Coulton GR ; Butler Browne G | 2011Efficient muscle regeneration requires cross talk between multiple cell types via secreted signalling molecules. However, as yet there has been no comprehensive analysis of this secreted signalling network in order to understand how it regulates[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Laustriat D ; Gide J ; Barrault L ; Furling D ; Peschanski M ; Baghdoyan S | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1), the most common form of inherited muscular dystrophy in adults, is due to an unstable expansion of CTG triplet repeats in the 3'-untranslated region of the DMPK gene. This generates alternate splicing defects in [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lejeune F ; Gonzalez S | 2011Nonsense mutations are responsible of about 8-10% of Duchenne muscular dystrophies. In most of cases, the consequence is the degradation of the premature termination codon (PTC)-containing mRNA by a mechanism called nonsense-mediated mRNA decay [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaouch S ; Mamchaoui K ; Trollet C ; Bigot A ; Negroni E ; Wolff A ; Kandalla P ; Marie S ; Di Santo J ; Muntoni F ; Lacau Saint Guily J ; Spuler S ; Philippi S ; Blumen S ; Furling D ; Voit T ; Wright W ; Aamiri A ; Butler-Browne GS ; Mouly V ; Kandalla PK ; Kim J ; Blumen SC ; Wright WE | AFM-TELETHON | 2011We recently generated immortalized human myoblast cell lines from control donors, by transduction of these cells with both telomerase (hTERT) and cyclin-dependent kinase 4 (CDK-4) expressing vectors. These cells maintain their potential to diffe[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gwenola M | 2011Almost one fifth of clinical trials of human gene therapy is based on the use of retroviral vectors for gene transfer. Their integration ensures stable transmission of the transgene to progeny cells. However, the provirus may influence host gene[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bourgeois A ; Duprez D | 2011Skeletal muscle development, growth and regeneration rely on muscle stem cells. An important goal is to understand the nature of the signals regulating these muscle stem cells during myogenesis. The signals regulating the pool of muscle progenit[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nicot AS ; Pilot-Storck F ; Sandri M ; Schaeffer L ; Goillot E | AFM-TELETHON | 2011Autophagy is essential for cell homeostasis through degradation of proteins and organelles by lysosomes, thus maintaining a balance between synthesis, degradation and recycling. Excessive protein clearance in disused muscles, cancer or some myop[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Whalen S ; Gonzales M ; Laquerrière A ; Quijano Roy S ; Delezoide AL ; Giuliano F ; Richard P ; Le Bail A ; Hainque B ; Chevallier A ; Bieth E ; Avila-Smirnow D ; Heron D ; Sternberg D | 2011IntroductionRecently, neuromuscular junction (NMJ) genes have been implicated in FADS, mainly in multiple pterygium syndromes, lethal (LMPS) or not (Escobar syndrome). Recessive mutations have been identified in CHRNG, RAPSN, CHRND, CHRNA1 and D[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Bolbos R ; Jouvion G ; Baligand C ; Carlier PG | 2011Dynamic in vivo nuclear magnetic resonance (NMR) imaging and spectroscopic investigations of metabolism, perfusion and/or oxygenation has existed in humans for many years, including in interleaved combinations of these1 and serves for clinical i[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schakman O ; Zanou N ; Shapovalov G ; Gallo C ; Dietrich A ; Lebacq J ; Ruegg U ; Birnbaumer L ; Gailly P | AFM-TELETHON | 2011Skeletal muscle contraction is reputed not to depend on extracellular Ca2+. Indeed, stricto sensu, excitation-contraction coupling does not necessitate entry of Ca2+. However, we previously observed that, during sustained activity (repeated cont[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hidalgo M ; Launay T ; Buisson N ; Marchand D ; Bigard X ; Beaudry M ; Darribère T | AFM-TELETHON | 2011Oxygen availability plays a central role during early development and normal muscular activity. Hypoxia, a decrease in oxygen availability, seems to induce modifications in the main calcineurin, PI3K and p38-MAPK pathways. To examine the hypoxia[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Iglesias C ; Delestree N ; Manuel M ; Zytnicki D | AFM-TELETHON | 2011In Amyotrophic Lateral Sclerosis (ALS; SOD1 G93A model), only the fast contracting motor units are affected [1,2]. The mechanisms leading to this selective vulnerability are still unknown. In particular, we do not know whether the motoneurons' ([...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Desaphy JF ; Costanza T ; Gramegna G ; Conte Camerino D | AFM-TELETHON | 2011The therapy of myotonia is based on the use of sodium channel blockers able to inhibit the high-frequency discharges of action potentials in skeletal muscle. Mexiletine (Mex) is widely considered as the first choice drug, but a number of myotoni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Decostre V ; Vignaud A ; Gourdon G ; Hogrel JY | 2011Introduction. The aim of this study was to set up an in vivo and non-invasive follow-up of the skeletal muscle function in small rodents. In this purpose we developed ahome-made torquemeter based on previous studies in the literature. The reprod[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Villa C ; Farini A ; Erratico S ; Belicchi M ; Meregalli M ; Fiori F ; Rustichelli F ; Torrente Y | 2011Cell therapy is an emerging approach of regenerative medicine with significant efforts in clinical areas. Stem cells cannot be easily observed directly when injected systemically, and, therefore, their behaviors need to be visualized indirectly.[...]Article
Increased cation entry throught rpc1 is mediated by PLC/PKC pathway in dystrophin-deficient myotubes
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Harisseh R ; Sabourin J ; Magaud C ; Déliot N ; Cognard C ; Constantin B | 2011Dystrophin is an integral structural component of skeletal and cardiac muscles. It provides mechanical stability during muscle contraction and has a crucial signaling role. The absence of dystrophin in DMD leads to calcium homeostasis dysregulat[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cowling B ; Amoasii L ; Toussaint A ; Koebel P ; Ferry A ; Davignon L ; Nishino I ; Mandel JL ; Laporte J | 2011Dynamin 2 (DNM2) is a large GTPase implicated in many cellular functions including cytoskeleton regulation and endocytosis. Whilst ubiquitously expressed, DNM2 was found mutated in two genetic disorders affecting different tissues: Autosomal Dom[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Penttila S ; Palmio J ; Suominen T ; Udd B | Institut de Myologie AIM | 2011Recently, recessive mutations in ANO5 gene have been shown to be a major cause of limb-girdle and other types of muscular dystrophy. According to recent studies, LGMD2L is one of the most common LGMDs in Europe, its prevalence being similar to t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Noviello M ; SaverioTedesco F ; Bondanza A ; Tonlorenzi R ; Gerli M ; Peretti G ; Bonini C | 2011Duchenne muscular dystrophy (DMD) is the most severe form of genetic muscular dystrophies. Albeit antinflammatory therapy has been shown to ameliorate disease course, at present DMD remains an incurable disease. Over the last few years, differen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Salort-Campana E ; Bernard R ; Nguyen K ; Sole G ; Niederhauser J ; Jouve E ; Fourquet I ; Fabre E ; Ollagnon E ; Sacconi S ; Echaniz-Laguna JA ; Duvocelle A ; Vial C ; Arne-Bes MC ; Desnuelle C ; Tranchant C ; Kuntzer T ; Ferrer X ; Pénisson-Besnier I ; Pouget J ; Attarian S | 2011BACKGROUNDFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with contraction of the subtelomeric D4Z4 repeat array on chromosome 4q.There is a marked inter and intra-familial heterogeneity in its clinical[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gutierrez Cortés N ; Börlin M ; Taanman JW ; Letellier T ; Rocher C | 2011Mitochondrial disorders belong, as a group, to the most common types of genetic disorders. Many of the patients carry either a mutation in a large fraction of theirmitochondrial DNA (mtDNA) molecules or show a depletion of mtDNA. In both cases, [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Repele A ; Piccoli M ; Franzin C ; Urbani L ; Zanon GF ; Milan G ; Vettor R ; Basso G ; Pozzobon M | AFM-TELETHON | 2011Oxygen has been demonstrated to influence proliferation and myotubes differentiation. However, the mechanism of influence is mostly unknown. We have recently reported that satellite cells may be comprised of two distinct populations of cells dis[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lopez-Alemany R ; Roig-Borrellas A ; Diaz-Ramos MA ; Llorens A ; García-Melero A ; Puigivila M | 2011The epidermal growth factor receptor (EGFR) is a transmembrane protein, of the ErbB family of tyrosine kinase receptors. It is considered a pleitropic signaler, usually associated to survival signal pathways. Overexpression of EGFR has been rela[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Muchir A ; Wu W ; Bonne G ; Worman H | 2011Autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD) is caused by mutations in the LMNA gene encoding A-type lamins, protein building blocks of the nuclear lamina. EDMD is characterized by muscle weakness and wasting in a humeroperoneal d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Ameziane-Le Hir S ; Chéron A ; Hubert JF ; Le Rumeur E ; Raguénès-Nicol C | 2011Duchenne and Becker muscular dystrophy (DMD and BMD respectively) are caused by mutations of the dystrophin's gene coding for a skeletal muscles protein included in the dystrophin-glycoprotein sarcolemmal complex. Whereas complete deficit in dys[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Benard R ; Giocanty-Auregan A ; Chaine G ; El-Mathari B ; Sahel JA ; Rendon A ; R.Tadayoni | 2011Purpose: To explore the interactions between Dystrophin protein 71 (Dp71), a sub-membranous cytoskeleton protein, and the blood retinal barrier (BRB), and a possible protective effect of dexamethasone through the regulation of Dp71. Methods: An [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarkis J ; Legrand B ; Chéron A ; Robert E ; Dupont D ; Jardin J ; Le Rumeur E ; Hubert JF ; Vié V | 2011Dystrophin is essential for skeletal muscle function and confers resistance to the sarcolemma by interacting with cytoskeletal and membrane partners. We previously showed that a large part of the rod domain of dystrophin interacts with membrane [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gulati S ; Kochar G ; Kabra SK ; Kabra M ; Yadav S ; Pandey RM | 2011Background : Corticosteroids are effective in delaying the loss of muscle strength leading to prolongation of ambulation in patients with Duchenne muscular dystrophy (DMD). The recommended dose for prednisone in ambulatory boys is daily 075 mg/k[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cherel Y ; Larcher T ; Deschamps JY ; Dutilleul M ; Guigand L ; Le Guiner C ; François V ; Montus M ; Servais L ; Voit T ; Moullier P | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jamet T ; Daniele N ; Guerchet N ; Tanniou G ; Mandel JL ; Buj Bello A | 2011X-linked Myotubular Myopathy (XLMTM) is the most severe form of centronuclear myopathy, a group of muscular diseases classified together in reason of the presence of abnormally large nuclei localized in central position of hypotrophic myofibres.[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kunz S ; Bigot A ; Zacharias U ; Mouly V ; Spuler S ; Cartaud J | AFM-TELETHON | 2011Dysferlin gene mutations cause limb-girdle muscular dystrophy (LGMD) 2B and miyoshi myopathy. These muscular dystrophies are characterized by progressive muscle weakness. Dysferlin is known to play an essential role in skeletal muscle membrane r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jacobson K ; Petermann O ; Ruegg U | AFM-TELETHON | 2011Duchenne muscular dystrophy is caused by the lack of dystrophin and characterized by membrane fragility and elevated levels of intracellular calcium. This increased calcium concentration aggravates the condition by stimulating proteolysis and ap[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; De Larichaudy J ; Vidal H ; Lefai E ; Nemoz G | AFM-TELETHON | 2011Muscle atrophy associated with a number of systemic diseases such as cancer constitutes a major health problem, due to its contribution to the deterioration of patient status and its impact on mortality. The primary cause of rapid muscle mass lo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Praud C ; Vauchez K ; Zongo P ; Fiszman M ; Vilquin JT | 2011Murine myoblast transplantation studies in mouse models have provided encouraging results but have underlined important limitations, such as acute cell death and poor migration capacity, beyond the immunological tolerance of the grafted cells. T[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Konig S ; Brawand P ; Bernheim L | AFM-TELETHON | 2011Our work is based on human primary myoblast cultures derived from single satellite cells. In human, as in other species, it is well established that myoblast differentiation is mainly controlled by two families of transcription factors, the Myog[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Shelton GD ; Levine J ; Mizisin AP | 2011Canine models of neuromuscular diseases, including those for inherited disorders such as the muscular dystrophies and centronuclear and myotubular myopathies, are playing a critical role in pre-clinical testing of new therapeutic modalities. To [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bevilacqua JA ; Kleinsteuber K ; Ben Yaou R ; Avaria MDLA ; Ferreiro A ; Demay L ; Chain A ; Richard P ; Urtizberea JA ; Bonne G | 2011Several different human diseases have been linked to mutations in the gene encoding lamin A/C (LMNA). Mutations in LMNA were first associated to autosomal forms of Emery-Dreifuss muscular dystrophy (EDMD), a rare slowly progressive humero-perone[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Erwan G ; Bigot A ; Jollet A ; Butler-Browne GS ; Mouly V ; Furling D | 2011Myotonic Dystrophy type 1 (DM1), one of the most common forms of inherited neuromuscular disorders, is caused by a (CTG)n> 40 repeat expansion in the 3'non-coding region of the DMPK gene. DM1 is an RNA-dominant disorder due to the expression of [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vezain M ; Gérard B ; Drunat S ; Funalot B ; Fehrenbach S ; N’Guyen-Viet V ; Vallat JM ; Frebourg T ; Tosi M ; Martins A ; SaugierVeber P | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of alpha motor neurons in the anterior horn cells of the spinal cord, often appearing during early childhood. This disease results in mo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gicquel Zouida E ; Karine C ; Daniele N ; Richard I | AFM-TELETHON | 2011Evelyne Gicquel, Karine Charton, Nathalie Dani and Isabelle Richard.Gthon, 1 bis rue de l'Internationale, 91000 Evry, France.Limb Girdle Muscular Dystrophies (LGMD) constitute a group of myopathies affecting muscles of shoulder and pelvic girdle[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sharma MC ; Pathak P ; Kaushal S ; Sarkar C ; Suri V ; Mohd H ; Bhatia R ; Gulati S | AFM-TELETHON | 2011Context: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting into total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is obtained by analyzing calpa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Takada H ; Goto T ; Seikoh K ; Yoshinobu O ; Michio K | AFM-TELETHON | 2011BackgroundInsulin resistance (IR) is a characteristic feature of dysglycaemia in myotonic dystrophy type 1 (DM1). Although the abnormal splicing of insulin receptor mRNA in DM1 muscles reported, the mechanism of IR remained obscure. The aim of t[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Cattin ME ; Ferry A ; Vignaud A ; Decostre V ; Varnous S ; Mougenot N ; Fromes Y ; Bonne G | 2011LMNA gene encodes lamins A/C, ubiquitous proteins of the nuclear envelope. They play crucial role in maintaining nuclear shape and stiffness. If mutated, they lead to muscular and cardiac diseases maybe due, in part, to excessive mechanical stre[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rafai MA ; Raji L ; Ibnkhribchia R ; Boulaajaj F ; Manaf S ; El Moutawakil B ; Slassi I | AFM-TELETHON | 2011INTRODUCTION : Neurological involevement during sarcoidosis are rare and varied. We report a case of a patient who presented a cranial pachymeningitis and the occurrence of local symptomatic muscular affection that allowed sarcoidosis' diagnosis[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Dorchies O ; Reutenauer-Patte J ; Montet X ; Patthey-Vuadens O ; Ruegg U | 2011DMD is a fatal muscle disorder caused by the absence of dystrophin and characterized by progressive muscle wasting. Weakness of the back muscles often causes postural alterations, impairing patients' respiratory function. Oxidative stress likely[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Le Gall T ; Lindberg M ; Hyde SC ; Gill DR ; Lehn P ; Montier T | 2011Acute unmethylated CG dinucleotide (CpG)-mediated inflammatory response has been shown to be associated with a brief duration of transgene expression in mouse lungs. Indeed, retention of even a single CpG in pDNA was demonstrated to be sufficien[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Rouger K ; Larcher T ; Dubreil L ; Deschamps JY ; Fromes Y ; Le Guiner C ; Jouvion G ; Delorme B ; Lieubeau B ; Ledevin M ; Zuber C ; Leroux I ; Guigand L ; Le Rumeur E ; Cherel Y | AFM-TELETHON | 2011Duchenne Muscular Dystrophy (DMD) is a progressive fatal X-linked recessive disorder of skeletal and cardiac muscles. It represents the most common muscular dystrophy, affecting one in 3,500 male births (Emery, 1991). It is characterized by the [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Laumonier T ; Hoffmeyer P ; Menetrey J | 2011Myoblast transplantation remains a promising therapeutic approach in the treatment of several muscular disorders including Duchenne Muscular Dystrophy. Nevertheless, such therapies are limited by a massive early cell death following injections. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Stenzel W | AFM-TELETHON | 2011Etiopathogenesis of sarcoidosis, a systemic granulomatous disease, still remains obscure. A multitude of organs affected by systemic sarcoidosis have been described. Skeletal muscles may also be affected, leading to myalgia and weakness. A work-[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Galletta E ; Saletti C ; Pasut A ; Malerba A ; Vitiello L | 2011The interplay between macrophages and muscle precursors is known to be critical for muscle repair and regeneration. In the past, we have already reported that themurine macrophage cell line J774 can produce a macrophage-conditioned medium (MCM) [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chekiri A ; Abdelhak S ; Hakem D ; Takheroubt K ; Berrah A ; Chaouch M ; Masmoudi AN ; Baba-Ahmed R | 2011INTRODUCTION Idiopathic inflammatory myopathies are a heterogeneous group of diseases including dermatomyositis, polymyositis and inclusion body myositis. It'simportant to diagnose these entities because they are potentially treatable. The aim o[...]Article
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011INTRODUCTION:It has been estimated that more than one person in every 3000 has a serious disabling inherited neuromuscular disorder. There are several scales to measure the stages of motor decline in NMD. Motor Function Measure (MFM) applicable [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nazzal D ; Truffault F ; Bismuth J ; Berrih-Aknin S | AFM-TELETHON | 2011Regulatory CD4+CD25+ T cells prevent the activation of auto-reactive T cells and play a key role in the induction of peripheral tolerance. We recently showed that regulatory T (Treg) cells are severely defective in the thymus from patients with [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sadlaoud K | AFM-TELETHON | 2011Mechanisms underlying muscle spasticity: alterations of the neural network and inhibitory synaptic transmission after spinal cord injuryKarina Sadlaoud, Pascale Boulenguez, Patrice Coulon, Laurent Vinay and Hne BrasLaboratoire Plasticitysio-Path[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Borgne FL ; Logerot M ; Guyot S ; Demarquoy J | 2011The metabolic alterations occurring in DMD cells have been little studied. This metabolic aspect of the disease has an obvious interest since metabolic alterations arising in muscle cells lead to an altered energy production that may contribute [...]