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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)) ; 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)) ; 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[...]
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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)) ; 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)) ; 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)) ; 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[...]
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; 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)) ; 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)) ; 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[...]
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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)) ; 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)) ; 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[...]
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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)) ; 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
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[...]
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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[...]
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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[...]
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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[...]
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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[...]
