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Le Bihan MC ; Le Bihan MC ; Bigot A ; Rogowska-Wrzesinska A ; Jensen SS ; Laine J ; Baraibar M ; Friguet B ; Dennis JL ; Jensen ON ; Coulton GR ; Mouly V | AFM-TELETHON | 2011With age, there is a gradual decline in the effectiveness of the regenerative response of skeletal muscle to damage which is accompanied by tissue remodeling such as muscle fiber atrophy, fibrosis and a general loss of muscle mass and function. [...]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)) ; 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)) ; 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
AFM-TELETHON 2011For most tissues, stem cell numbers decline negligibly with age, but there is a nevertheless an age-dependent decline in stem cell functionality. Many molecular, biochemical, and functional features of stem cells have been characterized across a[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Marie J | 2011La dystrophie myotonique de type 1 (DM1) est la pathologie musculaire la plus fréquente chez l'adulte. C'est une pathologie autosomale dominante à caractère multisystémique touchant de nombreux organes. La mutation est une expansion anormale du [...]Article
Purpose: Inclusion Body Myositis (IBM) is the most common acquired myopathy in patients above the age of 50 years. This disabling disease is an inflammatory myopathy characterized by CD8+ cytotoxic infiltrates and amyloid deposits. IBM remains r[...]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)) ; 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
RNA therapeutic approaches have proven to be very successful in cell culture and in animal experiments. Some oligonucleotides based clinical trials are currently already in progress. To be efficient, the oligonucleotides must be composed of non-[...]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)) ; 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
Mouly V ; Larghero J ; Toy-Miou M ; Eymard B ; Pascal L ; Chapon F ; Butler Browne G ; Lacau Saint Guily J | AFM-TELETHON | 2011Degenerative dystrophy of the pharyngeal muscles in OPMD causes fibrosis with swallowing disorders and a decreased relaxation of the cricopharyngeal muscle (CPM) (muscle of the upper esophageal sphincter, UES). The myotomy of the UES improves on[...]Article
Le Guiner C ; Montus M ; Garcia L ; Y.Fromes ; Hogrel JY ; Carlier P ; Cherel Y ; Moullier P | AFM-TELETHON | 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
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Heron D ; Jacquette A ; Whalen S ; Angeard N ; Eymard B | 2011La dystrophie myotonique de type 1 (DM1) est une maladie neuro-musculaire autosomique dominante d'une grande variabilité phénotypique, liée à une expansion instable d'un triplet CTG dans la région 3' du gène DMPK L'instabilité méiotique de l'exp[...]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[...]Livre
Collectif, Auteur | 2011Ce document contient le programme et les résumés de ce colloque sur les FSHDArticle
AFM-TELETHON 2011Spinal muscular atrophy (SMA) is caused by Survival Motor Neuron (SMN) protein deficiency. The vast majority of SMA patients have deletions of the SMN1 gene, leaving SMN2 as the only source of SMN protein. However, due to a single nucleotide cha[...]Article
In vivo gene electrotransfer (ET) is often used in preclinical gene therapy studies. Many studies attempted to optimize ET protocols to increase efficiency while reducing muscle damage. Most of them reported histological evidences of muscle dege[...]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)) ; 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)) ; 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)) ; 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)) ; 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)) ; 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)) ; 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
AFM-TELETHON 2011Much of what is known about the molecular pathways that lead to human cardiovascular disorders has come from studying animal models, particularly genetically modified mice. In some cases it is possible to translate genetic discoveries from human[...]Article
Ben Ammar A ; Soltanzadeh P ; Bauche S ; Richard P ; Goillot E ; Herbst R ; Gaudon K ; Huze C ; Lecuyer HA ; Schaeffer L ; Yamanashi Y ; Higuchi O ; Taly A ; Koenig J ; Leroy JP ; Hentati F ; Najmabadi H ; Kahrizi K ; Ilkhani M ; Fardeau M ; Eymard B ; Hantaï D | AFM-TELETHON | 2011Poster : Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuro[...]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
Mice that over-express growth factor-1 IGF-1 in skeletal myofibres develop muscle hypertrophy, however the mechanism of such hypertrophy in vivo has not been established. This study characterized novel strains of normal and dystrophic (mdx) mice[...]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
Benard R ; Benard R ; Dupas B ; Sene A ; Gaudric A ; Sennlaub F ; Sahel JA ; Tadayoni R | AFM-TELETHON | 2011Purpose : To investigate whether Dystrophin protein 71 (Dp71), the smallest product of Duchenne Muscular Dystrophy (DMD) gene, and key component of the membrane associated cytoskeleton has an implication in angiogenesis. Methods: Flat mounted r[...]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)) ; 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
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Wahbi K ; Meune C ; Porcher R ; Bécane HM ; Lazarus A ; Laforet P ; Stojkovic T ; Behin A ; Radvanyi-Hoffmann H ; Eymard B ; Duboc D | 2011Background: Patients presenting with myotonic dystrophy type 1 (DM1) undergo either a non-invasive strategy (NIS) and permanent pacing if major abnormalities of impulse propagation are detected on the electrocardiogram (ECG), or an invasive stra[...]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
Centronuclear myopathies are rare muscle diseases characterized by muscle weakness associated to the abnormal positioning of nuclei in muscle fibers. Mutations in myotubularin (MTM1) have been identified in the most severe form of CNM: the X-lin[...]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
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)) ; 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
AFM-TELETHON 2011Our group is focused on two closely interconnected research lines, aiming to increase the understanding of the molecular mechanisms controlling skeletal muscle regeneration, as well as fibrosis development in dystrophinopathies. Specifically, ou[...]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
AFM-TELETHON 2011Null mutations in the dystrophin gene, leading to lack of the protein dystrophin are manifest most conspicuously in the form of myonecrotic lesions of the muscle fibres. These, in turn, are thought to activate inflammatory mechanisms and to driv[...]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
Coppée F ; Ansseau E ; Tassin A ; Charron S ; Laoudj-Chenivesse D ; Wilton S ; Belayew A | AFM-TELETHON | 2011Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a prevalence of 7/100,000 birth. It is characterized by an antero-posterior and often asymmetric progression of muscle weakness first affecting the face, the sc[...]Article
Cassina P ; Cassina P ; Otsmane B ; Moumen A ; Seilhean D ; Meininger V ; Barbeito L ; Pettmann B ; Raoul C | AFM-TELETHON | 2011Amyotrophic lateral sclerosis (ALS) is an incurable neurodegenerative disease that primarily affects motoneurons in the brain and spinal cord. Dominant mutations in superoxide dismutase-1 (SOD1) cause a familial form of ALS. Mutant SOD1-damaged [...]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
AFM-TELETHON 2011Skeletal muscle development, growth and regeneration rely on muscle stem cells. An important goal is to understand the source and the nature of the signals regulating these muscle stem cells during myogenesis. Intrinsic and extrinsic regulatory [...]Article
Pitx2 is a paired-related homeobox gene that is expressed in muscle progenitors during myogenesis. We previously have demonstrated that Pitx2c is the main Pitx2- isoform expressed in Sol8 myoblasts and overexpression of Pitx2c in Sol8 cells main[...]Article
AFM-TELETHON 2011Muscle satellite cells are mitotically quiescent in adult muscle but are activated immediately following muscle injury. Activated satellite cells proliferate and differentiate for supplying myonuclei, and also self-renew for maintaining satellit[...]Article
Shichiji M, Auteur ; Biancalana V ; Manéré L ; Viou MT ; Fardeau M ; Laporte J ; Romero NB | 2011Poster M9 : INTRODUCTION : La myopathie myotubulaire (XLMTM) liée au chromosome X est due à des mutations du gène MTM1 qui code pour la myotubularine 1. Habituellement, ces patients mâles présentent à la naissance un phénotype clinique sévère e[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Bel C ; Bidault des Chaumes A ; Mahaut I ; Orssaud L | 2011Qu'est-ce que Myobase ? Myobase est une base de données bilingue (FR/ENG) qui donne accès à des références bibliographiques dans le domaine des maladies neuromusculaires et du handicap moteur. Mise à jour quotidiennement, elle est éditée par le [...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Cuisset JM ; Collet B ; Maurage CA ; Vallée L | 2011INTRODUCTION : Le déficit en triose phosphate isomérase (TPI)est une affection autosomique récessive multisystémique associant anémie hémolytique, atteinte neuromusculaire et/ou neurologique, cardiomyopathie et prédisposition aux atteintes bacté[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Ravelojaona M ; Messonnier L ; Oyono-Enguelle S ; Vincent L ; Gourounas A ; Féasson L | 2011INTRODUCTION : La drépanocytose est une hémoglobinopathie récessive connue pour ses répercussions hématologiques et vasculaires. Les patients homozygotes (HbSS) présentent une intolérance à l'effort, mais peu de données sont rapportées concernan[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Tiffreau V ; Detrembleur C ; van den Berg B ; Renders A ; Kinet V ; Lejeune T | 2011INTRODUCTION : Les troubles de la marche dans La DM1 sont caractérisés par des troubles de l'équilibre. La déficience musculaire distale est le principal causal décrit. Nous émettons l'hypothèse que d'autres perturbations du contrôle moteur entr[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Vicart S ; Sternberg D | 2011INTRODUCTION : L'appellation " myotonie congénitale " désigne les myotonies non dystrophiques dues à des mutations du gène du canal chlore musculaire CLCN1. Depuis les descriptions de Thomsen (1876) et de Becker (1957), il est clair que l'affect[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Kostallari E ; Baba-Amer Y ; Lafuste P ; Gherardi RK | 2011INTRODUCTION : Le muscle squelettique comporte deux types principaux de cellules souches : les cellules satellites musculaires (CSm) et les cellules souches mésenchymateuses interstitielles. Les CSm sont nichées à l'état quiescent sous la lame b[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Mayeuf A ; Vincent S ; Lagha M ; Anne D ; Relaix F ; Kume T ; Buckingham M | 2011Vertebrate skeletal muscles derive from transitory mesodermal structures called somites. Within the dorsal part of the somite, the dermomyotome, there are progenitors that express the transcription factor Pax3. The dermomyotome gives rise to the[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Walther Louvier U ; Mercier M ; Azais M ; Leboucq N ; Rondouin G ; Echenne B ; Latour P ; Rivier F | 2011INTRODUCTION : La maladie de Charcot-Marie-Tooth, liée à l'X (CMTX1) est une neuropathie héréditaire causée par des mutations du gène GJB1 codant pour la Connexine 32. Cette protéine est présente dans les systèmes nerveux périphérique et central[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Hu S ; Lefaucheur JP ; Creange A ; Authier FJ ; Sene D | 2011INTRODUCTION : 40 % des patients avec un syndrome de Sjogren (SS) présentent des douleurs neuropathiques et un EMG normal, évoquant une neuropathie des petites fibres (NPF). Le diagnostic de NPF nécessite une exploration spécifique des petites f[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Mignard C ; Trommsdorff V ; Labarthe P ; Muszlak M ; Chamouine A | 2011INTRODUCTION : L'Ile française de Mayotte, située dans l'Océan Indien, entre Madagascar et l'Afrique est devenue département français depuis 2011, elle souffre d'un retard notable au point de vue des moyens et des droits sur le plan sanitaire. L[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Dumez C ; Nadaj-Pakleza A ; Pénisson-Besnier I | 2011INTRODUCTION : La maladie de Pompe (MP) est une maladie de surcharge glycogénique lysosomale dont le diagnostic repose sur la mise en évidence d'un déficit en alpha-glucosidase. Chez l'adulte, l'expression clinique est dominée par l'atteinte du [...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Sacconi S ; Duboc D ; Salviati L ; Wahbi K ; Laloui K ; Laforet P ; Desnuelle C | 2011Pompe disease is an autosomal recessive disorder caused by deficiency of a-glucosidase and lysosomal accumulation of glycogen in muscle and other tissues. Cardiomyopathy was very frequent in the childhood form of this disease, before the introdu[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Gallais B ; Montreuil M ; Gargiulo M ; Eymard B | 2011INTRODUCTION : Les aspects neuropsychologiques et psychopathologiques sont décrits dans la DM1. En revanche, les liens pouvant existés entre ces deux dimensions et leurs implications en termes d'ajustement à la maladie demeurent moins connus. OB[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Dogan C ; Hamroun D ; Beroud C ; Eymard B ; Bassez G | 2011INTRODUCTION : Le tableau clinique complexe des dystrophies myotoniques (DM1, DM2) est un obstacle au suivi des patients, à la recherche et plus particulièrement à la mise en place d'essais cliniques. OBJECTIF : L'Observatoire national des dystr[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Huguet A ; Medja F ; Nicole A ; Guiraud-Dogan C ; Metzger F ; Gomes Pereira M ; Puymirat J ; Bassez G ; Furling D ; Gourdon G | 2011INTRODUCTION : Myotonic dystrophy type I (DM1) is a dominant disease, showing highly variable multisystemic symptoms. The adult onset form may present muscle weakness, myotonia, cardio-respiratory problems, cataracts, hypersomnia, hyperinsulinis[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Michel L ; Huguet A ; Nicole A ; Gourdon G | 2011INTRODUCTION : La dystrophie myotonique de type 1 (DM1) est une maladie multisystémique caractérisée chez l'adulte par une cataracte, une myotonie, une faiblesse musculaire et des troubles cognitifs et du comportement. Dans la forme congénitale [...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Revillod L ; Beraud C ; Dogan C ; Furling D ; Gherardi RK ; Puymirat J ; Gourdon G ; Bassez G | 2011INTRODUCTION : Les dystrophies myotoniques (DM) sont caractérisées par une faiblesse musculaire, une myotonie et une atteinte multisystémique impliquant le coeur, le cerveau et le système endocrinien. Dans les DM de type 1 et type 2, les répétit[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Bost M ; Gervais-Bernard H ; Bouhour F ; Choumert A ; Ollagnon E ; Petiot P ; Gonnaud PM ; Lapras J ; Vial C ; Svahn J | 2011INTRODUCTION : La DM2 est une affection autosomique dominante liée à l'expansion CCTG dans l'intron 1 du gène ZNF9 (chromosome 3q21). OBJECTIF ET METHODE : Cette étude rétrospective, réalisée à partir de dossiers cliniques, recense les caractéri[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Picchio L ; Preethi P ; Da Ponte JP ; Jagla C | 2011Introduction : Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder affecting 1/8000 individuals worldwide. This disease is caused by an unstable expansion of CTG trinucleotide repeats located in the 3' untranslated region of the[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Lemos E ; Gomes S ; Scanu P ; Sabatier R ; Chapon F ; Morello R ; Grollier G ; Milliez P | 2011INTRODUCTION : Au cours de la dystrophie myotonique (DM1), le coeur est atteint de façon habituelle, mais l'évolution cardiovasculaire est difficile à prévoir du fait de son expression paroxystique. OBJECTIF : Cette étude a pour objectif de défi[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Picchio L ; Taghli O ; Da Ponte JP ; Jagla C | 2011INTRODUCTION : Myotonic dystrophy type 1 (DM1) is a dominant neuromuscular disorder affecting 1/8000 individuals worldwide. This disease is caused by an unstable expansion of CTG trinucleotide repeats located in the 3' untranslated region of the[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Allart E ; Olivier N ; Lacour A ; Thevenon A ; Tiffreau V | 2011INTRODUCTION : Dans la Dystrophinopathie de Becker, l'activité de la NO synthase neuronale associée à la dystrophine est réduite, ce qui entrainerait une ischémie fonctionnelle d'effort. OBJECTIF : Déterminer les modifications de l'oxygénation m[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Decostre V ; Vignaud A ; Gourdon G ; Hogrel JY | 2011INTRODUCTION : Des modèles murins de DM1 ont été développés et des approches thérapeutiques se concrétisent. Le développement de mesures de la fonction musculaire in vivo chez des modèles de DM1 devient indispensable pour évaluer l'efficacité de[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Medja F ; Huguet A ; Ferry A ; Butler Browne G ; Gourdon G ; Furling D | 2011La Dystrophie Myotonique de type I (DM1) est une des maladies neuromusculaires les plus fréquentes chez l'adulte. La mutation responsable de cette maladie autosomique dominante est une expansion de triplets CTG localisée dans la région 3' non co[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Hamon MA ; Meslier N ; Richard I ; Aube AC ; Havet V ; Person C ; Dubas F ; Gagnadoux F ; Pénisson-Besnier I | 2011INTRODUCTION : Respiratory problems represent the leading cause of morbidity/mortality in myotonic dystrophy type 1 (DM1). The pertinence of usual criteria for considering noninvasive ventilation (NIV) in neuromuscular diseases is not establishe[...]Article
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Panaite PA ; Gourdon G ; Kuntzer T ; Barakat-Walter I | 2011INTRODUCTION : Myotonic dystrophy type 1 (DM1) is a genetic autosomal dominant multisystem disease resulting from an unstable CTG repeat expansion of DMPK gene on chromosome19q. Acute and chronic respiratory failure are frequent complications in[...]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)) ; 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
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Objective: To describe clinical, muscle histopathological and genetic features of a large Italian-Spanish family with autosomal dominant LGMD, previously mapped to 7q32.2-32.2 (LGMD1F) without mutations in the Filamin C. A pedigree with 153 fami[...]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)) ; 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)) ; 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)) ; 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
IXèmes Journées Annuelles de la Société française de Myologie (SFM) (3-5 novembre 2011; Angers) ; Milea D | 2011La maladie de Steinert, pathologie neuromusculaire autosomique dominante, a des manifestations systémiques variées, sous forme d'atteintes cardiaques, respiratoires, gastrointestinales, endocriniennes, mais aussi oculaires. Les manifestations ne[...]Article
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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 [...]