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 :
AFM
|
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[...]