Détail du congrès:
Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
Commentaire :
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Documents disponibles provenant de ce congrès (565)
Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Galy A | 2008Clinical gene therapy studies have demonstrated the immunogenicity of AAV vectors since neutralizing antibodies and cytolytic T-cell responses have been elicited against the capsid, in some patients. For further clinical development, the immunog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Filosto M ; Tonin P ; Vattemi G ; Scarpelli M ; Baronchelli C ; Broglio L ; Tentorio M ; Padovani A ; Tomelleri G | 2008External ophthalmoplegia (EO), although often present in various neuromuscular diseases, is not usually observed in muscular dystrophies except for oculopharyngeal muscular dystrophy. We report on 37-year-old man, healthy until age 25, affected [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Uzenot D ; Delmont E ; Attarian S ; Verschueren A ; Boucraut J ; Azulay JP ; Pouget J | 2008The objective of this study was to determine clinical, electrophysiological and biological characteristics of chronic sensory ataxia associated with anti-GD1b IgM antibodies. Anti-GD1b antibodies had been associated with acute and chronic sensor[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Behin A ; Stojkovic T ; Claeys K ; Laforet P ; Dubourg O ; Maisonobe T ; Fournier E ; Ferreiro A ; Bécane HM ; Wahbi K ; Duboc D ; Bouche P ; Stoltenburg G ; Richard P ; Udd B ; Goudeau B ; Eymard B | 2008Myofibrillar myopathies (MMF), defined by an abnormal accumulation of diverse proteins within muscle fibers, correspond to an expanding number of genetic abnormalities. Material and methods: In our department, 64 patients from 43 families presen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Olive M | 2008Desminopathies are familial or sporadic muscle disorders due to mutations in the desmin gene. The disease is autosomal dominant in most of the cases, but not infrequently results from de novo mutations. By contrast, recessive mutations have been[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tetreault M ; Srour M ; Allyson J ; Thiffault I ; Loisel L ; Robitaille Y ; Vanasse M ; Brais B | 2008Limb girdle muscular dystrophies are a heterogeneous group of pathologies characterized by weakness and wasting of the limb girdle muscles, with typical sparing of the face. To date, seven autosomal dominant forms (LGMD1A-G) and thirteen autosom[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kazakov VM ; Rudenko D ; Kolynin V | 2008We give the description of two autosomal dominant with 4q35 linked facioscapuloperoneal muscular dystrophy families in which the patients were re-examined by V.K. after 28 -37 years and the typical changes of the pattern of muscle affections on [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Haddad H ; Rigolet A ; Caizergues D ; Douar AM ; Millot L ; Lambert I ; Liabeuf M ; Laforet P ; Leturcq F ; Voit T ; Behin A ; Eymard B ; Carlier P ; Benveniste O ; Lemoine F ; Hogrel JY ; Rosier-Montus M ; Denèfle P ; Herson S ; Masquelier AM | 2008In late November 2006, GENETHON initiated its first gene therapy clinical trial in gamma-sarcoglycanopathy (LGMD2C), a rare autosomal recessive muscular disorder caused by mutations in the gamma-sarcoglycan gene. Patients commonly present with p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Scutifero M ; Saccone V ; Di Gregorio MG ; Ventriglia VM ; Passamano L ; Cecio MR ; Piluso G ; Canki-Klain N ; Nigro V ; Politano L | 2008Limb-girdle muscular dystrophies (LGMD) include a broad group of genetically determined progressive muscle disorders. By definition, patients should present primary or predominant symmetrical atrophy of the pelvic and/or shoulder girdle musculat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnier N ; Marty I ; Drouhin S ; Lamaria M ; Teissier N ; Thérier P ; Labarre-Vila A ; Lunardi J | 2008RYR1-related diseases include malignant hyperthermia and structural congenital myopathies among which the most common are core myopathies. Other forms such as centronuclear myopathies and myopathies with predominance of type I fibres or with dis[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stojkovic T ; Hammouda EH ; Richard P ; Laforet P ; Lopez de Munain A ; Besnier-Penisson I ; Ferrer X ; Eymard B | 2008Background : Hereditary inclusion body myopathy with Paget disease of bone (PDB) and frontotemporal dementia (FTD), or IBMPDF disease, is an autosomal dominant disorder related to mutations in Valosin-containing protein (VCP). Objective: The aim[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duboc D ; Wahbi K ; Meune C ; Eymard B ; Toutain A ; Bérard C ; Bécane HM | 2008DMD: Background Duchenne muscular dystrophy (DMD), due to lack of dystrophin, is associated with severe myocardial dysfunction. Although preliminary data support the efficacy of angiotensin-converting enzyme inhibitors on left ventricular ([...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh S ; Rathore C ; Goyal V ; Shukla G ; Jagannathan N ; Behari M | 2008Background: Muscle histopathology, in myopathies does not give any information about the biochemical changes in the muscles in disease. MR spectroscopy can throw some light on the biochemical aspect of muscle pathology, and may be of incremental[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Medja F ; Jardel C ; Nelson I ; Tchikviladzé M ; Laforet P ; Eymard B ; Lombès A | 2008Genetic alterations of the catalytic subunit of the polymerase gamma gene (POLG) have been recently involved in very diverse clinical diseases ranging from early severe Alpers-Huttenlocher syndrome to late adult diseases presenting with a very d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Esquitin N ; Escobar RE ; Miranda A ; Escobar MG ; Coral R ; Rodriguez M ; Velasquez AC | 2008Duchenne muscular dystrophy is a neuromuscular disease genetically inherited X-linked condition with progressive physical disability. The exact functional role of the dystrophin in the brain is unknown, but their absence is associated with a dow[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pagnon-Minot A ; Malbouyres M ; Haftek-Terreau Z ; H Kim R ; Sasaki T ; Thisse C ; Thisse B ; Ingham PW ; Ruggiero F ; Le Guellec D | 2008Muscle cells are surrounded by extracellular matrix, the components of which play an important role in signalling mechanisms involved in their development. In mice, loss of collagen XV, a component of basement membranes expressed primarily in sk[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Charvet B ; Bader H ; Schulze J ; Koch M ; Ruggiero F | 2008The myotendinous junction (MTJ) provides a structural link between the muscle cell cytoskeleton and the extracellular matrix (ECM) of tendons. Lack of one of the MTJ components can alter dramatically muscle cell anchoring to the tendon. Still, i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sigoillot S ; Lambergeon M ; Bourgeois F ; Leger J ; Legay C | 2008Congenital Myasthenic Syndromes (CMS) are inherited muscular disorders affecting neuromuscular transmission. Mutations in the acetylcholinesterase (AChE) collagen-like tail subunit gene (ColQ) underlie synaptic basal lamina associated congenital[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pedemonte M ; Ottonello G ; Scapolan S ; Doglio L ; Minetti C | 2008Neuromuscular disorders (NMD) are the most important cause of hypercapnic respiratory insufficiency in childhood and respiratory failure is the major cause of morbidity and mortality in NMD. The use of non-invasive ventilation (NIV) in NMD patie[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke N ; Monnier N ; Smith R ; Waddell L ; Cooper S ; Lunardi J ; North K | 2008Background: Congenital fibre type disproportion (CFTD) is a subtype of congenital myopathy in which consistent type 1 fibre hypotrophy, compared to type 2 fibres, is the main histological abnormality. Recessive mutations in RYR1 have been associ[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martoni E ; Bovolenta M ; Grumati P ; Fabris M ; Trabanelli C ; Venturoli A ; Fini S ; Previtali S ; Mercuri E ; Messina S ; Bertini E ; Maioli M ; Sabatelli P ; Colomer J ; Marrosu G ; Bernardi P ; Bonaldo P ; Merlini L ; Ferlini A ; Gualandi F | 2008The collagen VI related myopathies include Bethlem (BM) and Ullrich (UCMD) muscular dystrophies, a pure limb girdle presentation (LGMD) and the Myosclerosis Myopathy. Despite of extensive sequencing procedures, either at genomic or cDNA level, t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hestand MS ; Van Galen M ; Villerius MP ; van Ommen GJB ; den Dunnen JT ; 't Hoen PAC | 2008The computational identification of transcription factor binding sites is difficult due to their small size, resulting in large numbers of false positives and negatives in current approaches. Two computational methods to reduce false positives a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boyer F ; Percebois L ; Jolly D ; Blanchard F ; Novella JL | 2008Introduction: Quality of life (QoL), health related quality of life (HRQoL) and perceived health measures are broadly explored. To understand definitely these measurements, we offer to remind you of basic concepts. Method: Pubmed search with key[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nevo Y ; Becker-Cohen M ; Yaron Y ; Pras E ; Resnik-Wolf H ; Rachmiel M ; Mitrani-Rosenbaum S | 2008A child presenting with hypotonia and muscle weakness since infancy, ambulation until twelve years of age, seizures and normal cognitive function is described. CK was elevated (650-1420 IU/L). Brain MRI showed a few abnormal T2 white matter chan[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bauche S ; Lipecka J ; Vinh J ; Demay-Thomas E ; Ben Ammar A ; Chevessier F ; Faraut B ; Witzemann V ; Rossier J ; Eymard B ; Koenig J ; Hantaï D | 2008Congenital myasthenic syndromes (CMS) are rare hereditary diseases characterized by a dysfunction of the neuromuscular transmission. Our group has identified MUSK mutations (one nonsense and one missense) in a CMS patient. Study of the patient’s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Larue S ; Behin A ; Laforet P ; Sternberg D ; Richard P ; Beillevaire T ; Hezode M ; Rigal O ; Gaudon K ; Claeys K ; Stoltenburg G ; Hantaï D ; Eymard B | 2008Congenital myasthenic syndromes (CMS) are a group of inherited disorders in which neuromuscular transmission is impaired, with several possible clinical presentations. The diagnosis of CMS may be particularly difficult in patients with a myopath[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Morin X ; Jaouen F ; Durbec P | 2008The spatio-temporal regulation of symmetrical as opposed to asymmetric cell divisions directs the fate and location of cells in the developing CNS. In invertebrates, G-protein regulators control spindle orientation in asymmetric divisions, which[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro A | 2008Congenital myopathies are inherited disorders defined by distinct structural changes in muscle fibres. Among these cytoarchitecture changes, core lesions, consisting of localized areas of mitochondria depletion and sarcomere disorganization, def[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Theveniau-Ruissy M ; Dandonneau M ; Miquerol L | 2008TBX1, encoding a T-box containing transcription factor, is the major candidate gene for del22q11.2 or DiGeorge syndrome, characterized by craniofacial and cardiovascular defects including tetralogy of Fallot and common arterial trunk. Mice lacki[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buj Bello A ; Fougerousse F ; Jamet T ; Durand M ; Kretz C ; Danos O ; Douar AM ; Montus M ; Denèfle P ; Mandel JL | 2008Myotubular myopathy (XLMTM) is a severe congenital muscular disease due to mutations in the myotubularin gene (MTM1) and characterized by the presence of small non-regenerative myofibres with frequent occurence of internalized nuclei. No specifi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Marquis J ; Trub J ; Trono D ; Schumperli D | 2008Spinal Muscular Atrophy (SMA) is caused by deletion/inactivation of the SMN1 (survival of motoneurons) gene resulting in a degeneration of ?-motoneurons. A second, nearly identical gene (SMN2) allows patients to survive into early childhood, but[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Dilek N ; Martens B ; Quinn C ; Moxley R | 2008Objective: To document the correlations between measures of muscle strength, function and QOL in DM-1. Background: Research funding agencies and Regulatory agencies are increasingly requiring clinical outcome measures that are reliable, responsi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tiret P ; Lecoq J ; Chaigneau E ; Ducros M ; Knopfel T ; Charpak S | 2008Several techniques of human functional brain imaging measure changes in blood flow parameters to localize activated cerebral regions. At present, the study of the spatio-temporal coupling between neuronal activity and associated vascular paramet[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lafoux A ; Bertrand J ; Gervier P ; Huchet-Cadiou C | 2008In duchenne’s muscular dystrophy, that is characterized by a progressive skeletal muscle fiber necrosis, the membrane-stabilizing protein dystrophin is missing, and this leads to altered total Ca2+ content in muscle fibers. This study investigat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makoukji J ; Trousson A ; Fonte C ; Grenier J ; Schumacher M ; Massaad C | 2008Glucocorticoids play a major role in the nervous system and promote myelination. Their action is mediated by the glucocorticoid receptor (GR) that recruits coactivators(CBP or p300). We investigated the role of CBP and p300 in Schwann cells. We [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ottaviani A ; Rival-Gervier S ; Boussouar A ; Forster A ; Rondier D ; Bauwens S ; Gilson E ; Magdinier F | 2008Both genetic and epigenetic alterations contribute to the Facio-Scapulo-Humeral Dystrophy (FSHD) linked to the reduction of a number of D4Z4 repeated elements at the 4q35 locus. The consequence of this rearrangement remains enigmatic but deletio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coletti D ; Berardi E ; Aulino P ; Moresi V ; Pristerà A ; Sassoon D ; Molinaro M ; Adamo S | 2008Chronic exposure to tumor necrosis factor-alpha (TNF) triggers muscle wasting reminiscent of cachexia (1), a debilitating syndrome characterized by skeletal muscle wasting (2). In addition to TNF-treated muscle we exploited tumor (C26)-bearing m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernard N ; Duplan L ; Marin P ; Raoul C ; Pettmann B | 2008Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving degeneration of the upper and lower motoneurons leading to progressive muscle atrophy. The best caracterized familial form of this disease is linked to mutations in the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Feron M ; Rouger K ; Dubreil L ; Arnaud MC ; Megeney L ; Sakanyan V ; Guevel L | 2008Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. The pathology is caused by mutations in the dystrophin gene but the mechanisms linking the absence of dystrophin to the massive muscle necrosis and progr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Al-Qusairi L ; Weiss N ; Sanoudou D ; Berbey C ; Messaddeq N ; Kretz C ; Allard B ; Beggs AH ; Mandel JL ; Jacquemond V ; Laporte J ; Buj Bello A | 2008X-linked myotubular myopathy (XLMTM) is a severe congenital disease that affects the skeletal musculature leading to early postnatal death of most patients. The gene responsible for the disorder, MTM1, encodes a lipid phosphatase named myotubula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yang X ; Mertens B ; Lehtonen E ; Vercammen L ; Bockstael O ; Chtarto A ; Levivier M ; Brotchi J ; Sarre S ; Tenenbaum L | 2008A tetracycline (tet)-inducible adeno-associated viral vector expressing human GDNF cDNA (AAV-tetON-GDNF) was administered in the striatum of rats 5 weeks after lesioning by intrastriatal 6-hydroxydopamine injection. A significant tet-dependent i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bertrand A ; Renou L ; Gueneau L ; Decostre V ; Lacene E ; Arimura T ; Malissen M ; Bonne G | 2008Lamin A and C, encoded by LMNA gene, localize at the inner face of the nuclear membrane and interact with multiple proteins and DNA. Mutations reported all along the LMNA gene are responsible for multiple diseases including Emery-Dreifuss muscul[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Fontaine JM ; Martin J ; Sun X ; Hoppe A ; Welsh M ; Benndorf R | 2008Three mutations (R120G, Q151X, 464?CT) in the small heat shock protein (sHsp) ?B-crystallin (?BC) have been found to cause inherited myofibrillar myopathy (Selcen and Engel, 2003; Vicart et al., 1998). ?BC forms homo-dimers, hetero-dimers with o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benedetti S ; Sacco F ; Zerbini G ; Morandi L ; Pegoraro E ; Trevisan C ; Comi G ; Ferrari M ; Previtali SC ; Pappone C | 2008Mutations in LMNA gene, encoding lamin A/C, have been associated with a high risk of sudden death. The implant of a cardioverter defibrillator (ICD) is to date the only effective intervention, but no specific guidelines are available. To define [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Iodice P ; Di Tano G ; Doria C ; Saggini A ; Saggini R | 2008Aging is characterised by a gradual decrease in muscle mass and muscle strength which contributes to a decline in physical functions, increase disability, frailty, and loss of independence. Age related loss of muscle mass is referred to as sarco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Basse N ; Couchoux H ; Génin E ; Abbaci K ; Blaineau S ; Vala C ; Bouvier-Durand M ; Le Ravalec V ; Vidal J ; Reboud-Ravaux M ; Berthier C | 2008Inhibiting the proteasome appears as a promising therapeutic tool for the treatment of muscle pathologies, including muscle atrophy and several myopathies. We have designed new proteasome inhibitors based on the cyclic natural inhibitor TMC-95A.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Clarke NF | 2008In recent years the phenotypes and histological patterns associated with known structural myopathy genes has expanded (eg RYR1, TPM3, TPM2). Many of the less well defined diagnostic entities, such as cap disease and congenital fibre type disprop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sharma M ; Tanveer N ; Sarkar C ; Gulati G ; Kalra K ; Singh S ; Bhatia R | 2008Objectives : To elucidate the role of skin biopsy in the diagnosis of dystrophinopathies. Study design : Paired skin and muscle biopsies from 39 cases of Duchenne muscular dystrophy, 4 cases of Becker muscular dystrophy and 37 controls w[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Heemskerk H ; de Winter C ; De Kimpe S ; van Kuik-Romeijn P ; Heuvelmans N ; Platenburg G ; van Ommen GJ ; van Deutekom J ; Aartsma Rus A | 2008Antisense-mediated exon skipping is a potential treatment for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) the disrupted DMD reading frame is restored, allowing the generation of partially functional dystrophin and [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miles M ; Carlson CG | 2008Daily treatment of adult mdx mice with intraperitoneal injections of pyrrolidine dithiocarbamate (PDTC) substantially improved the resting membrane potential in severely dystrophic (mdx) triangularis sterni (TS) muscle fibers (Carlson et al., Ne[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Franco D ; Velasco E ; Martinez S ; Lyons G ; Navarro F ; Aranega A | 2008Pitx2 is a member of the bicoid family of homeodomain transcription factors that plays a relevant role in morphogenesis. Pitx2 expression has been detected in many tissues during development, including myotomes as well as in migrating myoblasts.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Eisenberg I ; Eran A ; Lidov HG ; Kang PB ; Kohane IS ; Kunkel LM | 2008The muscular disorders are a heterogeneous group of over thirty different inherited diseases characterized by muscle wasting and progressive weakness of variable distribution and severity, resulting in significant morbidity and disability. Altho[...]Article
Distribution of ribonucleoprotein complexes in cajal bodies from SMA type i-derived fibroblast cells
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renvoisé B ; Lefebvre S | 2008Spinal Muscular Atrophy (SMA) is a common neurodegenerative disease caused by reduced levels of the Survival Motor Neuron (SMN) protein. SMN is part of a large ubiquitous protein complex that concentrates in nuclear gems/Cajal bodies (CBs) and p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | 2008Myotonic dystrophy type 2 (DM2) is caused by (CCTG)n repeat expansion in the first intron of ZNF9 gene, with the smallest reported disease causing expansion of 75 repeats. Repeat region consists of a complex motif (TG)12-26(TCTG)7-12(CCTG)3-9(G/[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blumen SC ; Israeli D ; Robin V ; Astord S ; Barkats M ; Vignaud L ; Porte F ; Achiron A ; Carasso RL ; Gurevich M ; Braverman I ; Blumen N ; Viollet L | 2008Distal hereditary motor neuronopathies form a heterogeneous group of rare inherited lower motor neuron disorders. Autosomal recessive inheritance has been reported in six subtypes (dHMN III, IV, VI, Jerash type). We studied a large inbred Israel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maqbool T ; Soler C ; Jagla T ; Jagla K | 2008Leg muscles of Drosophila display a unique vertebrate-like multi-fiber organization. They form a highly stereotyped pattern of dorsal and ventral multi-fiber muscle units, which are attached to the internal tendons in the adult leg (soler et al.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chartier A ; van der Maarel SM ; Verrips T ; Simonelig M | 2008Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease characterized by eyelid dropping, swallowing difficulties and limb weakness. Alanine expansions in the coding region of poly(A) binding protein N1 (PABPN1) resulting from GCG trin[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boulanger A ; Ramanoudjame C ; Dura JM | 2008At the neuromuscular junction (NMJ) individual muscle fibers are first contacted by many motoneurons, later in development synapse elimination and denervation followed by branch pruning occurs, so that, only one motoneuron innervates a same musc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Yacoub-Youssef H ; Arnold L ; Gherardi K ; Chazaud B | 2008Macrophages are important for skeletal muscle regeneration and may exert beneficial effects on myogenic cell growth through mitogenic and anti-apoptotic activities. However, macrophages are highly versatile and may exert various, and even opposi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Berardinelli A ; Orcesi S ; Rossi M ; Motta C ; Gorni K ; Balottin U | 2008Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder due to lack of Dystrophin protein in muscle. Dystrophin is mainly concentrated in skeletal and cardiac muscle and less in smooth muscle, its deficiency causing s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ferreiro V ; Giliberto F ; Muniz Garcia N ; Francipane L ; Marcese D ; Roque M ; Frechtel G ; Szijan I | 2008The severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD) are characterized by progressive muscular degeneration. Both are caused by mutations in the dystrophin gene (Xp21.2). Two thirds of patients show intrage[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sblendorio V ; Palmieri B ; Ferrari A ; Pietrobelli A | 2008Abstract. Duchenne muscular dystrophy yields pervasive and progressive muscle mass loss. In the current measures relating to the monitoring of disease progression is relevant: 1) the type of scale used; 2) the clinical significance of the at[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Loureiro De Sousa P ; Vignaud A ; Carlier PG | 2008NMRI (Nuclear Magnetic Resonance Imaging) investigations have attempted to exploit the Blood-Oxygen-Level-Dependent (BOLD) contrast in the skeletal muscle as an estimator of physiological parameters. However, beside changes in hemoglobin saturat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Durieux AC ; Bitoun M ; Prudhon B ; Guicheney P | 2008Autosomal dominant centronuclear myopathy (AD-CNM) is a rare congenital myopathy, clinically characterized by delayed motor milestones and muscle weakness and often associated with ptosis and ophthalmoplegia. The gene responsible for AD-CNM has [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bitoun M ; Prudhon B ; Durieux AC ; Bevilacqua JA ; Romero NB ; Guicheney P | 2008The autosomal dominant centronuclear myopathy (CNM) is a rare congenital myopathy characterized by delayed motor milestones, facial and muscular weakness often associated with bilateral ptosis. The typical muscle histopathology comprises central[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bevilacqua JA ; Krahn M ; Pedraza L ; Gejman R ; Gonzalez S | 2008Dysferlinopathies are autosomal recessive muscular dystrophies caused by mutations in the dysferlin (DYSF) gene that encodes for dysferlin (MIM 603009). Dysferlinopathy manifests as two main clinical phenotypes, distal Miyoshi’s myopathy and LGM[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aouba A ; Terrier B ; Goulvestre C ; Guillevin L ; Authier FJ | 2008Muscle involvement in the setting of anti-threonyl-tRNA synthetase (anti-PL7) syndrome is usually regarded as similar to that associated with anti-Jo1 syndrome and roughly classified as polymyositis or dermatomyositis. Contrasting with this view[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Thompson O ; Kleino I ; Crimaldi L ; Gimona M ; Saksela K ; Winder S | 2008Dystroglycan is an essential component of the dystrophin glycoprotein complex of skeletal muscle (DGC), an important mediator of connections to the actin cytoskeleton and a scaffold for signalling molecules in a number of other cell types. In ad[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benard R ; Dupas B ; Tadayoni R ; Sene A ; Roux MJ ; Nudel U ; Yaffe D ; Sahel JA ; Rendon A | 2008Dp71 is the most abundant Duchenne Muscular Dystrophy (DMD) gene product expressed in the retina. This protein in the Müller glial cells (MGC) plays a role in regulating the retinal homeostasis by clustering Kir4.1 and AQP4 channels. (see poster[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Avril-Delplanque A ; Mercier S ; Daoud F ; Nusbaum P ; Leturcq F ; Kaplan JC ; Dreyfus P ; Chelly J ; Garcia L | 2008Duchenne Muscular Dystrophy (DMD) is the most severe form of dystrophinopathy, in which nul mutations in the DMD gene (mostly frameshifting deletions, and nonsense point mutations) result in the complete absence of dystrophin. A milder phenotype[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Poron F ; Barbet P ; Gherardi R ; Christov C | 2008In DMD, repeated cycles of acute myofiber necrosis and regeneration progressively lead to severe terminal myofiber degeneration and extensive fibrosis. A preliminary analysis of 39 muscle biopsies from DMD patients at different ages allowed roug[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Delrée P ; Coulic V ; Collette J ; Gothot A | 2008PURPOSE :in order to easily study heart development or reconstruction, we have developed a model of ectopic (in time and location) foetal heart graft. RESULTS : In this model ,rat foetal heart (E15-E20) , is grafted in the pavilion ear of an adu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coulic V ; Delrée P ; Collette J ; Gothot A | 2008Hirschprung disease may be considered as an intestinal neuropathy with muscular dysfunction. Some hope for its treatment has appeared with cellular therapy. Aim: to test the possibility of intestinal nervous ganglia reconstruction . Material, me[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pandya S ; Fox D ; Ciafaloni E ; Druschel C ; Moxley R | 2008Objective : To determine the effect of age at initiation of corticosteroids on age at loss of ambulation in patients with Duchenne muscular dystrophy (DMD) Background : The hypothesis among clinicians is that earlier the initiation of corticoste[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hourde C ; Vignaud A ; Jagerschmidt C ; Butler-Browne GS ; Ferry A | 2008We have analysed the effect of physiological doses of androgens administrated after orchidectomy on the skeletal muscle of male rats, as well as the relationships between muscle performance, hypertrophy as well as the Akt/mTOR signalling pathway[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Briguet A ; Erb M ; Courdier-Fruh I ; Barzaghi P ; Santos G ; Herzner H ; Lescop C ; Siendt H ; Henneboehle M ; Weyermann P ; Magyar J ; Dubach-Powell J ; Metz G ; Meier T | 2008Dystrophin deficiency is the underlying molecular cause of progressive muscle weakness observed in Duchenne muscular dystrophy (DMD). Loss of functional dystrophin leads to elevated levels of intracellular Ca2+, a key step in the cellular pathol[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Tonson A ; Ratel S ; Le Fur Y ; Cozzone P ; Bendahan D | 2008The purpose of this investigation was to determine whether maturation affects the relationship between muscle size and maximal strength and to investigate the reasons accounting for the discrepancies among previous studies. Methods: Maximal isom[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rauscent H ; Bérard C ; Humbertclaude V ; Gautheron V ; Richelme C | 2008Concerning multidisciplinary care of Duchenne Muscular Dystophy (DMD), the prevention of scoliosis remains a priority. Spinal surgery is considered as the treatment of choice and early instrumentation and fusion are widely proposed. The objectiv[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Noirez P ; Mouly V ; Fiszman M ; Keller A ; Dubois C ; Alameddine HS | 2008Fibrosis, characterized by excessive accumulation of extracellular matrix (ECM), is a hallmark of muscle biopsies in several muscular dystrophies such as Congenital (CMD) or Duchenne Muscular Dystrophies (DMD). Cell therapy trials have shown tha[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Orlikowski D ; Laforet P ; Pellegrini N ; Prigent H ; Monnet A ; Carlier P ; Carlier R ; Eymard B ; Lofaso F ; Annane D | 2008Efficacy of Enzyme Replacement (ERT)Therapy is not fully assessed in severe late-onset forms of Pompe disease (SLO Pd). The aim of the study is to assess efficacy and tolerance of ERT in SLO Pd in a Prospective, open-label, single arm, monocente[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Turin E ; Hoff H ; Gatti F ; Winders T ; Singh R ; Starke J ; Rutter J ; Bledsoe C ; Lavin J ; Palmieri B ; Carlson CG | 2008Ursodeoxycholic acid (UDCA) is in current clinical use for the treatment of biliary cirrhosis and has been shown to reduce nuclear p65 activation in HeLa cells expressing elevated glucocorticoid receptor (Miura et al., J. Biol. Chem., 276(50), 4[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernardi H ; Gay S ; Fedon Y ; Bolzec T ; Bacou F | 2008The molecular signals that regulate satellite cell function remain largely obscure. However, it was recently demonstrated that Wnts participate in the temporal control of satellite cell expansion versus differentiation during adult muscle regene[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lostal W ; Bourg N ; Roudaut C ; Miyake K ; Mcneil P ; Bartoli M ; Richard I | 2008Dysferlinopathies are recessive muscular disorders caused by defects in dysferlin. Genetic mutations are responsible for two major phenotypes: Limb Girdle Muscular Dystrophy type 2B and Distal Miyoshi Myopathy. These skeletal muscle diseases are[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Steffensen B ; Mayhew A ; Aloysius A ; Eagle M ; Mercuri E ; Messina S ; Mazzone E ; Nadeau A ; Main M ; Scott E ; Werlauff U ; Werge B ; Glanzmann A ; Muntoni F | 2008The EK scale was developed as a clinical tool to assess functional ability and to determine the need for and impact of intervention in the non-ambulatory stages of Duchenne muscular dystrophy (DMD) and in spinal muscular atrophy (SMA). EK is a c[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blais F ; Léjard V ; Maro GS ; Gilardi-Hebenstreit P ; Rossert J ; Duprez D | 2008The molecular mechanisms underlying tendon formation during vertebrate embryogenesis are still largely unknown. In Drosophila, tendon differentiation relies upon the transcription factor stripe, an Early growth response (Egr)-like transcription [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Giroux-Metgès MA ; Hogrel JY ; Fiszman MY ; Fromes Y | 2008CHF147 hamster strain is an animal model of delta-sarcoglycan deficiency. Skeletal muscular dystrophy features observed in this model are very similar to those described in humans with more severe disease in proximal than distal muscles. Muscle [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boerio D ; Lefaucheur JP ; Bassez G ; Hogrel JY | 2008Fatigue frequently occurs in various neuromuscular disorders specially in myotonic dystrophy type 1 (DM1). However its pathophysiology remains unclear. This study aimed to investigate the effects of exercise-related fatigability on central and p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jaconi M | 2008Cell transplantation therapy is an attractive strategy in the treatment of myocardial infarction. Given the present lack of a good cardiogenic source for transplantation among adult stem cells, lots of studies are presently focusing on methodolo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Barbet P ; Gherardi R ; Christov C | 2008The primary muscle fiber injury in DMD is due to total absence of dystrophin. With evolution of the disease, an increasing extent of myofibrosis, the precise mechanisms of which remain to be fully determined, likely accelerates myofiber death. I[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Malerba A ; Vitiello L ; Segat D ; Dazzo E ; Frigo M ; Scambi I ; Boldrin L ; Martelli L ; Pasut A ; Romualdi C ; Baroni D | 2008Skeletal muscle regeneration relies onto a specific population of myogenic precursors, named satellite cells. Inflammation also has a determinant role, as upon injuring macrophages are attracted by the damaged myofibers and the activated satelli[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nivet AL ; Plancheron A ; Lustremant C ; Peschanski M ; Monville C | 2008Duchenne muscular dystrophy (DMD) is a genetic disease with an X-linked recessive pattern of inheritance. It affects one in 3,500 boys at birth. Muscular dystrophies are caused by mutation of the same gene encoding for the dystrophin. This prote[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mongue-Din H ; Liu JM ; Salmon A ; Fiszman MY ; Wdzieczak-Bakala J ; Fromes Y | 2008The chronically failing heart is characterized by alterations in tissue structure, particularly fibrous tissue formation, responsible for the loss of myocardial compliance. Furthermore, rhythm disturbances are commonly observed. The underlying a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Doglio L ; Pernigotti I ; Tacchino C ; Pedemonte M ; Scapolan S ; Minetti C | 2008DMD patients walk with a non-physiological pattern showing a initially weakness of antigravitary muscles, followed by loss of walking capability. Initially, DMD patients do not show clinical signs of pathological pattern, that become manifest wi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jenny C ; Albert V ; Vovard F ; Denèfle P ; Merten OW | 2008Myogenic progenitor cells are promising tools for cell therapy to treat neuromuscular disorders. But a challenging question is their amplification to a satisfying scale for clinical applications. Until now, most of myogenic progenitor cells have[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vattemi G ; Marini M ; Mechref Y ; Meneguzzi A ; Tonin P ; Grigoli L ; Di Chio M ; Tedesco V ; Lovato L ; Filosto M ; Scarpelli M ; Chiamulera C ; Minuz P ; Novotny M ; Tomelleri G | 2008Mitochondrial diseases (MD) are multisystemic disorders, mostly affecting central nervous system, skeletal and cardiac muscle. To evaluate the hypothesis that in MD the vessel wall, in particular the vascular endothelium, may be affected by incr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Belicchi M ; Meregalli M ; Razini P ; Cattaneo A ; Farini A ; Iacchetti E ; Porretti L ; Milani P ; Bresolin N ; Torrente Y | 2008The use of stem cells in regenerative medicine and cell-based therapies offers immense potential in diseases witch have currently no treatment such as Duchenne muscular dystrophy. A limitation to the use of CD133+ for a therapeutic application i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Falorni M ; Volpi L ; Calsolaro V ; Bonanni E ; Monzani F ; Emdin M ; Siciliano G | 2008Excessive daytime sleepiness (EDS) is common in patients with Myotonic Dystrophy type 1(DM 1) and is a major factor that interferes with the social life of the disease. There are contrasting opinions in literature about the mechanism of EDS in D[...]Article
Exercise-induced rhabdomyolysis as isolated clinical expression of COQ10 deficiency. A new phenotype
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; González-Pérez P ; Rivas-Infante E ; Sánchez-Alcázar JA ; Navas Lloret P ; Bautista-Lorite J | 2008OBJECTIVES: We present a new phenotype associated to CoQ10 deficiency characterised by a late-onset recurrent myoglobinuria and exercise intolerance without muscle weakness nor CNS involvement. CoQ10 supplementation was introduced and by now the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Navarro C ; Farini A ; Meregalli M ; Belicchi M ; Parolini D ; Razini P ; Krahn M ; Wein N ; Bourg N ; Bartoli M ; Richard I ; Torrente Y | 2008Mutations in gene encoding Dysferlin are involved in Limb-gird Muscular Dystrophy type 2B (LGMD-2B) and and Miyoshi myopathy (MM), both diseases are characterized by progressive weakness and wasting of skeletal muscles. Dysferlin is abundantly e[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rahbek J | 2008Most clinicians, researchers, health care advocates, policy makers, and even third-party payers agree - on a conceptual level - that the measurement of QoL is an important consideration in evaluating the effectiveness of medical rehabilitation i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Degoutin J ; Brunet-De Carvalho N ; Gouzi JY ; Cifuentes-Diaz C ; Vigny M | 2008Anaplastic lymphoma kinase (ALK) is a receptor tyrosine kinase that is transiently expressed in specific regions of the central and peripheral nervous systems, suggesting a role in its normal development and function. The nature of the cognate l[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sellathurai J ; Joergensen LH ; Petersson SJ ; Jensen CH ; Dhawan J ; Schroeder HD | 2008Muscular dystrophies are a heterogeneous group of muscle degenerating diseases for which no effective treatment exist. A potential treatment strategy could be developed by studying DLK1 and myostatin regulation. DKL1 and myostatin are known to g[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chopard A ; Bronicki L ; Hillock S ; Lunde J ; Jasmin BJ | 2008Several transcriptional mechanisms are known to be involved in the atrophic-hypertrophic response of skeletal muscle. However, converging lines of evidence have led us to hypothesize that post-transcriptional events, operating at the level of mR[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Castets P ; Maugenre S ; Gartioux C ; Rederstorff M ; Lescure A ; Krol A ; Tajbakhsh S ; Allamand V ; Guicheney P | 2008SEPN1-related myopathy is a rare disorder characterized by axial muscle weakness, scoliosis and respiratory failure, and caused by mutations in the SEPN1 gene, encoding selenoprotein N (SelN). This entity gathers four autosomal recessive muscula[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rosas-Sánchez F ; Martínez-Torres A | 2008Muscle satellite cells (SMCs) are quiescent precursors of myoblast with specific localization and cytology properties (Mauro, 1961; Muir et al., 1965; Gibson et al., 1982; Schmalbruch y Hellhammer., 1977). SMCs are able to proliferate, different[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rochat A ; Alonso S ; Morais J ; Relaix F | 2008Growth and repair of adult skeletal muscle is achieved by a population of progenitor/stem cells, the satellite cells. Satellite cells are derived from a fetal population of Pax3-expressing progenitor cells providing successive waves of myogenic [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dodille-Plaisant M ; Allegra M ; Loubat A ; Sacconi S ; Ponzio G ; Delplace S ; Corbel L ; Desnuelle C ; Rossi B | 2008Facioscapulohumeral muscular dystrophy (FSHD) is an inherited neuromuscular disorder affecting a characteristic pattern of muscles. The physiopathological mechanism has not been elucidated yet, but relies on the deletion of the D4Z4 repeat in th[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sakthivel M ; Lakshmi R ; Thilothammal N ; Viswanathan V | 2008A 10-year-old female child presented with 2-year history of progressive difficulty in walking and getting up from supine posture. Clinical evaluation, serum creatine phosphokinase levels (2222 IU/L) and muscle biopsy was consistent with muscular[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Baudot C ; Poitelon Y ; Hamadouche T ; Jacquier A ; Boccaccio I ; Chouery E ; Chaouch M ; Kassouri N ; Jabbour R ; Grid D ; Mégarbané A ; Haase G ; Delague V | 2008Charcot-Marie-Tooth (CMT) disorders are a clinically and genetically heterogeneous group of hereditary neuropathies characterized by chronic distalweakness and sensory loss. CMT4H is an autosomal recessive demyelinating subtype recently mapped b[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Baranov VS ; Vakharlovsky VG ; Komantzev V ; Malysheva OV ; Kiselev AV | 2008The results of prolonged valproic acid (VA) treatment of 13 patients affected with proximal spinal muscular atrophy (SMA) are summarized. Positive clinical response was registered in 10 out of 13 SMA patients. Some minor clinical progress was re[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Quijano Roy S ; Vuillaumier-Barrot S ; Maugenre S ; van den Bergh P ; Peudenier S ; Bouchet C ; Chelbi M ; Avila D ; Steinbrecher A ; Orlikowski D ; Marcorelles P ; Romero NB ; Leturcq F ; Estournet B ; Guicheney P ; Seta N | 2008Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan, usually due to a founder mutation of the fukutin gene. FCMD is characterized by severe congenital muscular dystrophy and mental retardation (MR)[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bassez G ; Guiraud-Dogan C ; Hamroun D ; Beroud C | 2008Myotonic dystrophy is the commonest muscular dystrophy in adults and the most variable neuromuscular disorder. This high variability of the multisystemic involvement creates particular challenges for both management and the design of optimal the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Picozzi P ; Cabianca D ; Gabellini D | 2008Facioscapulohumeral muscular dystrophy (FSHD) is the third most important myopathy. Currently, no therapeutic treatment is available for FSHD. Unlike the majority of genetic diseases, FSHD is not caused by mutation in a protein-coding gene. Inst[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Germinario E ; Esposito A ; Peron S ; Tupler R ; Danieli-Betto D | 2008Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary neuromuscular disorder characterized by progressive weakness and atrophy of the facial, shoulder, abdominal and pelvic girdle muscles. Evidence indicates the over-expression of genes [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Truffault F ; Nazzal D ; Kerlero-De-Rosbo N ; Berrih-Aknin S | 2008Myasthenia Gravis (MG) is an autoimmune disease characterized by antibody-mediated dysfunction of the neuromuscular junction. Regulatory CD4+CD25+Foxp3+ T cells (Treg) are responsible for maintenance of the peripheral self-tolerance. Our previou[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cambier L ; Rassam P ; Auffray C ; Pomiès P | 2008By quantitative hybridization of a high-density cDNA array, fourteen novel gene transcripts, called GENX, preferentially expressed in human muscles have been identified (Piétu et al., 1996). My research project is to identify and to characterize[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pomiès P ; Beckerle M | 2008The two ALP (?-actinin associated LIM protein) isoforms, smALP and skALP, which exhibit identical N-terminal PDZ domains and C-terminal LIM motifs with a variable central core, are produced as a result of alternative splicing and are known to in[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Weiss N ; Couchoux H ; Bichraoui H ; Legrand C ; Allard B ; Ronjat M ; Berthier C ; Jacquemond V | 2008Caveolins constitute a membrane-associated family of proteins believed to regulate various signaling proteins, including ion channels. Mutations in the CAV3 gene which encodes the muscle specific isoform caveolin-3 (Cav-3) lead to muscle disease[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sene A ; Fort PE ; Forster V ; Mornet D ; Nudel U ; Yaffe D ; Sahel JA ; Rendon A | 2008We have showed that Dp71 and Utrophin are the only dystrophin superfamily members expressed in Müller Glial cells (MGC). Dp71 deletion leads to a compensating utrophin up-regulation Here we characterized the Dp71 or Utrophin /Dystrophin Associat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gautheron V | 2008An assessment of functional capacity is essential before starting any rehabilitation treatment and is a prerequisite if compensatory strategies and technical aids are to be suggested to patients. The Functional Independence Measure (FIM™) was pu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nuutinen E ; Marttila M ; Ollila S ; Donner K ; Pelin K ; Wallgren-Pettersson C | 2008Tropomyosins together with the troponin complex regulate the binding of actin to myosin during muscle contraction. In humans tropomyosins are encoded by at least four different genes, TPM1-4. Mutations in the beta-tropomyosin (TPM2) gene have be[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Calbo S ; Delagrèverie H ; Arnoult C ; Authier FJ ; Tron F ; Boyer O | 2008The mechanisms of immunological tolerance to skeletal muscle autoantigens remains mostly unknown. To investigate this issue, we generated transgenic mice expressing the neo-autoantigen ovalbumin (OVA) exclusively in skeletal muscle (SM-OVA mice)[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fleischmann BK | 2008We have assessed in recent years the utility of different types of progenitors/stem cells for cardiac repair after myocardial infarction. One of the key questions was whether infarcted heart tissue can determine the differentiation fate of engra[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Boulay C ; Pomero V ; Jacquemier M ; Custaud M ; Pagni S ; Viehweger E ; Glard Y ; Jacopin S ; Launay F ; Jouve JL ; Bollini G ; Chabrol B | 2008The gait analysis provided different kinematic patterns of walking in the Charcot Marie Tooth disease (CMT). The dynamic electromyography (EMG) described the muscles pattern for each type of gait in CMT. The classical gait pattern in CMT is char[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hogrel JY ; Canal A ; Barrey E ; Ollivier G | 2008Quality of gait is a fundamental outcome measurement for the follow-up of neuromuscular patients either during the natural history of their disorder or during a therapeutic trial. Precise gait analysis can be performed using kinematic systems in[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Duddy W ; Cohen T ; Partridge T | 2008Loss of muscle mass through atrophy is associated with aging, cachexia, inactivity through illness or injury, and many neuromuscular disorders. Regulation of muscle mass is important for strength and fitness of healthy individuals. Change in mus[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pallafacchina G ; Montarras D ; Cumano A ; Buckingham M | 2008Satellite cells are the main progenitor cells for skeletal muscle growth and regeneration under physiological conditions. The difficulty of purifying these quiescent cells in sufficient number has precluded their biochemical characterization. Pa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pautrel I ; Crapie C ; Jacques D ; Sequestra N ; Noguiez-Hellin P | 2008Généthon’s ETGC is working in 5 production rooms - dispatched on two sites - among which 3 are dedicated to viral vectors production for development of therapeutic products for phase I and II clinical trials. These productions are performed in c[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Burghes A ; Workman E ; McGovern V ; Saieva L ; Pellizzoni L ; Beattie C | 2008Spinal muscular atrophy is caused by loss or mutation of the SMN1 gene and retention of SMN2, leading to low levels of functional SMN. A major function of SMN is assembly of the heptameric Sm ring onto snRNA with SMA tissues having reduced activ[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Junion G ; Bataillé L ; Jagla T ; Da Ponte JP ; Tapin R ; Jagla K | 2008Correct diversification of cell types during development is controlled by combinatorial code of transcription factor activities, the identity gene code. The role of identity genes in specifying cell fates has been demonstrated in a broad range o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gueneau L ; Ben Yaou R ; Demay L ; Llense S ; Chikhaoui K ; Trabelsi M ; Beugnet C ; Deburgrave N ; Leturcq F ; Chelly J ; Richard P ; Bonne G | 2008Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare autosomal or X-linked recessive condition, associating muscular dystrophy, joint contractures and cardiac disease. Mutations in 2 genes, EMD (emerin) and LMNA (Lamins A/C) encoding nuclear envel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arvanitis DA ; Sanoudou D ; Kolokathis F ; Vafiadaki E ; Theodorakis G ; Kontrogianni-Konstantopoulos A ; Paraskevaidis IA ; Adamopoulos S ; Dorn II GU ; Kremastinos DTH ; Kranias EG | 2008Abnormal Ca-cycling in the cardiomyocyte is a hallmark of dilated cardiomyopathy (DCM). Furthermore, DCM patients are at substantial risk for sudden cardiac death due to malignant ventricular arrhythmias. The histidine-rich calcium binding prote[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Apostol P ; Cimponeriu D ; Toma M ; Butoianu N ; Burloiu C ; Craiu D ; Magureanu S ; Gavrila L | 2008Vitamin D is a steroid hormone known for its key roles in calcium homeostasis, proliferation and apoptosis. Previous studies have also reported the association of vitamin D deficiency with muscle weakness and neuromuscular dysfunction. The vitam[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Melki J | 2008Motor neuron diseases (MND) are rare diseases characterized by degeneration of lower (spinal muscular atrophy, SMA), upper (spastic paraplegia, HSP and primary lateral sclerosis) or both upper and lower motor neurons (amyotrophic lateral scleros[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Basak AN | 2008ALS is the most common adult-onset motor neuron disease. Described in 1869, by the French Neurobiologist J. M. Charcot, the primary disease hallmark is the selective and progressive degeneration of the neurons in the corticospinal tracts. ALS pr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laing NG | 2008The congenital myopathies are a diverse group of entities, with considerable genetic heterogeneity. The genetic heterogeneity includes mutations in multiple different genes causing similar pathological phenotypes, and multiple different patholog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makri S ; Clarke NF ; Richard P ; Maugenre S ; Demay L ; Terki N ; Bonne G ; Guicheney P | 2008Background: Mutation p.Arg527Pro in the lamin A/C, encoded by LMNA gene, was identified several times in dominant Emery-Dreifuss muscular dystrophy and cases with muscular dystrophy, lipodystrophy, and cardiac rhythm disturbances. We found this [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Musarella M ; Bellouze S ; Caillol G ; Autillo-Touati A | 2008Mouse mutants provide good models for the study of degenerative neuromuscular diseases in human. Although recent data indicate a pivotal role for Terminal Schwann Cells (TSC) in maintaining synaptic structure and function, their role in patholog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Huynh M ; Garcia-Filipe S ; Morin C ; Barbier-Chassefière V ; Besse S ; Narassimprakash H ; Jeniskens G ; Martelly I ; Papy-Garcia D | 2008Despite the increasing evidences demonstrating the diverse roles of glycosaminoglycans (GAGs) in many fundamental biological processes, most studies directed to understand the extracellular matrix implication in cardiac dysfunction focuses mainl[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fauchille S ; Adin P ; Barnay-Toutain F ; Burie C ; Dufour D ; Halbout C ; Le Provost G ; Maleau G ; Sander B ; Noguiez-Hellin P | 2008Genethon has been provided with GMP manufacturing facilities of about 600 m2 for the production of viral vectors for human gene therapy trials. All steps are performed on the site: plasmid production, cell banking, cell culture, purification and[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Moore-Morris T ; Varrault A ; Le Digarcher A ; Journot L ; Nargeot J ; Couette B | 2008Maintaining or even enhancing skeletal muscle mass is critical not only in inherited muscular disorders but also in the context of aging and in various disease states associated with muscle loss. The aim of any treatment for muscle wasting is to[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Larue S ; Maisonobe T ; Papo T ; Chapelon-Abric C ; Lidove O ; Servan J ; Veber H ; Dashi F ; Dubourg O | 2008We report four patients with chronic myopathy suggestive of inclusion body myositis (IBM), but in whom muscle biopsy showed a granulomatous myositis (GM). Our 4 patients, three women and one men, aged 71 to 83, presented with a slowly progressiv[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dorchies O ; Comyn S ; Ruegg U | 2008Muscular dystrophies are characterized by fibrosis, a process leading to abnormal accumulation of materials of fibroblastic origin in the skeletal muscles as necrosis-regeneration cycles take place. Fibrosis results from alterations in a multifa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maier A ; Cohen R ; Blom J ; Westendorp R | 2008Sarcopenia is defined as a decrease in skeletal muscle mass that is particularly caused by satellite cells being unable to proliferate. The number of satellite cells, as well as the proliferative capacity of isolated satellite cells in vitro dec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renou L ; Stora S ; Ben Yaou R ; Sinkovec M ; Demay L ; Richard P ; Peterlin B ; Bonne G | 2008Heart-hand syndrome (HHS) is a heterogeneous group of genetic disorders characterized by congenital cardiac and limb deformities. Five subtypes are currently reported, among them the Slovenian type (HHS-S) associating bracydactyly and cardiac co[...]Article
Heat shock treatment increases engraftment of human transplanted myoblasts into immunodeficient mice
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bencze M ; Riederer I ; Negroni E ; Bigot A ; Butler-Browne GA ; Mouly V | 2008One of the phenomena known to limit the success of myoblast transfer therapy (MTT) is the massive and early cell death observed during the first few hours after cell injection. A major part of injected cells die by necrosis and apoptosis, thus d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Posadas Martinez MM | 2008The mitochondrial DNA point mutation T8993G has been associated with NARP and maternally inherited Leigh syndrome (MILS). Usually there is a correlation between the percentage of mutated mtDNA and clinical severity. Objectives: The aim is to sho[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kaneva G ; Laporte J ; Winsor B ; Friant S | 2008The human myotubularin gene (hMTM1) that is mutated in a severe congenital neuromuscular disease, X-linked myotubular myopathy (XLMTM), encodes a phosphatase specific for phosphatidylinositol 3-phosphate (PtdIns(3)P) and PtdIns(3,5)P2. In Saccha[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Abriat A ; Kozak G ; Brosset C ; Figarella-Branger D ; Monnier N ; Cozzone PJ ; Pellissier JF ; Lunardi J ; Bendahan D | 2008Exertional heat stroke (EHS) occurs in young, healthy individuals engaged in a strenuous physical activity and is accompanied by hyperthermic and lost of consciousness. Given that EHS and Malignant Hyperthermia (MH), a subclinical myopathy due t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Belayew A | 2008Facioscapulohumeral muscular dystrophy (FSHD) is considered a disorder of gene regulation. The pathological deletions contract the D4Z4 repeat array in the 4q35 subtelomeric region from 11 -150 units in healthy individuals down to 1-10 units in [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chien KR | 2008The heart is composed of diverse cell types: cardiac muscle, smooth muscle, conduction system, endothelial, valvular, and interstitial mesenchymal fibroblasts. Embryonic heart field precursors, marked by the expression of the isl1+ LIM homeodoma[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Peschanski M | 2008In a preliminary study published 8 years ago (Bachoud-Lévi et al., The Lancet 2000) we showed encouraging results of transplantations of foetal neuroblasts to the brain of patients with Huntington's Disease. Four out of the 5 grafted patients ex[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lipskaia L ; Colombe A ; Lehoux S ; Esposito B ; Atassi F ; Le Prince P ; Bonnet N ; Le Feuvre C ; Hatem S ; Hajjar R | 2008Coronary restenosis, results mainly from the proliferation of vascular smooth muscle cells (VSMC). Here, we determine whether in human arteries, the cardiac isoform of the sarco/endoplasmic reticulum calcium ATPase, SERCA2a controls VSMC prolife[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Acharjee S ; Friesen W ; Tomizawa Y ; Baiazitov R ; Lee S ; Nadarajan T ; Moon YC ; Sweeney L ; Welch EM | 2008PTC Therapeutics, Inc. (PTC) and Parent Project Muscular Dystrophy (PPMD) are collaborating to discover new drugs to treat Duchenne muscular dystrophy (DMD). Several targets were selected to enter the drug discovery program based on functional v[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Butler-Browne GS ; LeBihan MC ; Bigot A ; Gasnier E ; Furling D ; Bechet D ; Mouly V | 2008Muscle loss is the most common phenomenon of normal healthy aging and frequently leads to frailty and loss of independence in the elderly. It is important to understand the basic cellular mechanisms underlying this impairment. Decrease in muscle[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aubert S ; Giraud-Triboult K ; Rochon-Beaucourt C ; Denis J ; Laustriat D ; Baghdiguian S ; Gide J ; Furling D ; Champon B ; Kassar-Duchossoy L ; Martinat C ; Sermon K ; Peschanski M ; Pietu G | 2008In order to address early developmental events associated with the mutation in Myotonic Dystrophy type 1 (DM1), we took the opportunity of an existing human embryonic stem cell line (hES) derived from an embryo after pre-implantation genetic dia[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Blandin G ; Marchand S ; Noulet F ; Gicquel E ; Barrault L ; Boucheteil J ; Formstecher E ; Meil A ; Collura V ; Daniele N ; Bartoli M ; Richard I | 2008To improve our understanding of the molecular pathways involved in the pathogenesis of muscular dystrophies and to allow identification of specific processes that may lead to future therapeutic strategies, we chose a domain-based yeast-two hybri[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Huchet-Cadiou C ; Carré-Pierrat M ; Lafoux A ; Tanniou G ; Gervier P ; Fougerousse F ; Ségalat L | 2008Several bioactive molecules, including antidepressants, efficiently prevent muscle necrosis in dystrophin-deficient C. elegans. We tested the effect of the antidepressant, Imipramine, on the muscle degeneration of mdx mice. The mdx 5cv strain wa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Risson V ; Corneloup C ; Mazelin L ; Sanchez H ; Rocerri M ; Richard H ; Vignaud A ; Bauche S ; Hantaï D ; Mueller M ; Kozma S ; Thomas G ; Ferry A ; Pende M ; Bigard X ; Koulmann N ; Schaeffer L | 2008The mammalian target of rapamycin (mTOR) is a serine/threonine kinase that coordinates cellular responses to nutritional and growth factor conditions by controlling transcription, translation, cell size, cytoskeletal organization and autophagy. [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Toussaint A ; Nicot AS ; Tosch V ; Kretz C ; Bohm J ; Oldfors A ; Laporte J ; Mandel JL | 2008Centronuclear myopathies (CNM) are characterized by muscle weakness and abnormal centralization of nuclei in muscle fibres without excessive regeneration. The severe neonatal X-linked form (myotubular myopathy, XLMTM) is due to mutations in the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arbogast S ; Muntoni F ; Ferreiro A | 2008Mutations of the selenoprotein N gene (SEPN1) have been identified as responsible for SEPN-related myopathy (SEPN-RM), an early-onset muscle disorder. Selenoprotein N is the only selenoprotein implicated in a human genetic disorder but its funct[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; L'Honoré A ; Coulon V ; Drouin J | 2008The myogenic program of cell differentiation is controlled by different groups of transcription factors acting during muscle development. We reported the expression of Pitx transcription factors throughout muscle development. The earliest member[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maxim D ; Otelea D | 2008DMD and BMD are transmitted as an X-linked recessive traits. Risks include a family history of DMD and BMD. Bayesians’ analysis may be used antenatally when DNA testing is uninformative or inconclusive .We report the family cases where the affec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chapon F ; Gartioux C ; Ledeuil C ; Demay L ; Brinas L ; Herlicoviez D ; Allouche S ; Ferreiro A ; Leturcq F ; Richard P ; Allamand V ; Bonne G | 2008Collagen VI-related muscle disorders, due to mutations in the 3 genes encoding Collagen VI, regroup Ullrich congenital muscular dystrophy, characterized by early onset generalized muscle weakness, marked proximal contractures and distal hyperlax[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Zeitouni B ; Tévy MF ; Aerts S ; Herrmann C ; Potier D ; Sémériva M ; Capovilla M ; Perrin L | 2008A number of inherited cardiomyopathies affect cardiac muscle organogenesis emphasizing the need to improve our knowledge of heart formation. Recent advances have shed light on patterning informations that lead to cardiac muscle formation. Howeve[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Piazzon N ; Rage F ; Schlotter F ; Moine H ; Branlant C ; Massenet S | 2008The common neurodegenerative disease spinal muscular atrophy (SMA) is caused by reduced levels of the survival of motor neuron (SMN) protein. SMN associates with several proteins to form a large complex that is essential for the assembly and met[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kandalla P ; Jacquemin V ; Reiderer I ; Butler-Browne GS ; Mouly V | 2008Satellite cells, the post-natal muscle progenitors, are responsible for the regenerative capacity of skeletal muscle. They remain quiescent on the edge of muscle fibers, and become activated when fibres degenerate, either after trauma or in gene[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laumonier T ; Konig S ; Bader C ; Bernheim L ; Hoffmeyer P ; Menetrey J | 2008Cellular therapies for Duchenne muscular dystrophy and other muscle diseases are limited by a massive early cell death following injections. The quantification of cell survival is an essential step to evaluate the efficiency of myoblast transpla[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pigozzo S ; Repele A ; Reggiani C ; Ausoni S ; Zaglia T ; Baroni MD ; Ambegia E ; McLachlan I ; Vitiello L | 2008Antisense-mediated exon skipping holds great potential for the treatment of DMD. In mdx mice, functional recovery of skeletal muscle has been reported upon systemic delivery of “naked” oligonucleotides or viral vectors encoding for antisense snR[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Montarras D ; Pallafacchina G ; Cumano A ; Buckingham M | 2008Satellite cells are the main progenitor cells for skeletal muscle growth and regeneration under physiological conditions. The difficulty of purifying these quiescent cells in sufficient number has precluded their biochemical characterization. Pa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay J | 2008Nonhuman primates are the ideal animal models for preclinical transplantation studies. In addition, in the case of myoblast transplantation, the behavior of these cells is similar to humans, in contrast to other animal models. Unfortunately, the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pal E ; Pfund Z ; Sütö G ; Horváth G | 2008The 49-year old man's case is presented, whose medical history was unremarkable, untill a hepatopathy was discovered 10 years ago. Serology and liver biopsy proved chronic hepatitis C virus (HCV) infection. In the first year interferon-alpha (IF[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miranda R ; Sébrié C ; Degrouard J ; Jaillard D ; Laroche S ; Vaillend C | 2008Mdx mice provide a model of the human X-linked muscular dystrophy (DMD) caused by mutations in the DMD gene inducing absence of 427-KDa cytoskeletal protein dystrophin. Not only expressed in muscle fibers, dystrophin is also present in the posts[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh R ; Samadi A ; Carlson CG | 2008Although several reports indicate that dystrophic muscle exhibits elevated nuclear p65 activation, little is known regarding the disposition of the alternative pathway in dystrophic muscle. In nondystrophic muscle, several of the components of t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh R ; Millman G ; Polisiakeiwicz L ; Turin E ; Sumski C ; Samadi A ; Carlson CG | 2008The development of more efficacious treatments for Duchenne and related muscular dystrophies would be facilitated by an improved understanding of the mechanism which promotes enhanced nuclear p65 activation in dystrophic skeletal muscle. To acco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mericskay M ; Blanc J ; Tritsch E ; Moriez R ; Aubert P ; Neunlist M ; Feil R ; Li Z | 2008SRF regulates the expression of muscle genes and immediate early genes and plays a crucial role in the heart and the skeletal muscles. Here, we investigated the consequences of inactivating SRF in adult gastrointestinal smooth muscle cells (SMCs[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desdouits M ; Huerre M ; Mouly V ; Rivière JP ; Butler-Browne GS ; Gessain A ; Ozden S ; Ceccaldi PE | 2008Background: HTLV-1 (Human T-Lymphotropic is a retrovirus that infects about 20 million people around the world and is the aetiological agent of two major diseases: Adult T Cell leukemia and Tropical Spastic Paraparesis; besides these diseases, i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnet A ; Wary C ; Wuyam B ; Verges S ; Duteil S ; Carlier PG | 2008Introduction: NMR is a powerful tool to assess musculo-skeletal perfusion and metabolism non-invasively and with a high time resolution. Blood oxygen level dependent (BOLD) NMR imaging readily provides contrast which depends on oxygenation but a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sandona D ; Gastaldello S ; Franzoso S ; Fanin M ; Angelini C ; Vidal J ; Basse N ; Reboud-Ravaux M ; Betto R | 2008Sarcoglycanopathies are progressive muscle wasting disorders caused by genetic defects of four proteins, ?-, ?-, ?-, and ?-sarcoglycan, elements of a key transmembrane complex of striated muscle. The proper assembly of the sarcoglycan complex re[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Brigitte M ; Plonquet A ; Tajbakhsh S ; Chazaud B ; Alberts M ; Gherardi R ; Chrétien F | 2008Perimuscular connective tissue has been poorly investigated at the cellular level although several inflammatory myopathies may exhibit huge epimysial macrophage infiltration. We examined murine muscle connective tissue in steady state conditions[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sarparanta J ; Vihola A ; Hackman P ; Richard I ; Udd B | 2008Tibial muscular dystrophy (TMD) is a dominant late onset distal myopathy caused by mutations in M-line titin. In the few homozygotes known, the same mutations lead to the different, more severe limb-girdle muscular dystrophy LGMD2J. Most of the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Le Guen L ; Notarnicola C ; de Santa Barbara P | 2008The gastrointestinal tract is a vital organ system present in all multicellular animals initially derived from a simple tubal structure. The morphology of the gut requires reciprocal signaling between the mesoderm and endoderm during development[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Di Giorgio F ; Carrasco M ; Siao MC ; Maniatis T ; Eggan K | 2008Here we report an in vitro model system to study the molecular and cellular mechanisms that underlie the neurodegenerative disease Amyotrophic Lateral Sclerosis (ALS). Embryonic stem (ES) cells derived from mice carrying transgenic alleles of t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mitchell KJ ; Sassoon D ; Marazzi G | 2008Non-satellite cells are known to possess myogenic potential and can participate in muscle regeneration, however, their precise position, origin and relationship to satellite cells remain unclear. During postnatal growth, PW1/Peg3, a gene co-expr[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay J | 2008The main constraint of the therapeutic strategy of intramuscularly injecting myogenic cells is that the implanted cells fuse only with the myofibers reached by the injection trajectories. An intravascular delivery of myogenic cells may be obviou[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fauré J ; Cacheux M ; Monnier N ; Brocard J ; Fourest-Lieuvin A ; Oddoux S ; Lunardi J ; Marty I | 2008Muscle contraction relies on efficient calcium release from sarcoplasmic reticulum (SR), performed by the ryanodine receptor (RyR1) upon cell stimulation. RyR1 is 5000 amino acids long, anchored in the membrane of SR, and coupled to the voltage-[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Skuk D ; Paradis M ; Goulet M ; Tremblay JP | 2008The main constraint of the therapeutic strategy of intramuscular myogenic-cell delivery is that the transplanted cells fuse only with the myofibers reached by the injection trajectories. This phenomenon is traditionally attributed to a “lack of [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rodriguez-Munoz R ; Mornet D ; Martinez-Rojas D | 2008?-Dystroglycan (?-DG) is a transmembrane protein that links the extracellular matrix with the cytoskeleton. This protein is a Dystrophin-associated protein (DAP) that has an important role in cell signaling, and cytoplasm and nuclear organizatio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stum M ; Bangratz M ; Bernard V ; Davoine CS ; Fontaine B ; Krejci E ; Nicole S | 2008Schwartz-Jampel syndrome (SJS) is a recessive disorder with neuromyotonia and chondrodysplasia that appear during childhood and slowly progress until adulthood. SJS results from hypomorphic mutations in the perlecan gene, a proteoglycan secreted[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Grifone R ; Jarry T ; Kelly RG | 2008Vertebrate craniofacial and trunk myogenesis are regulated by distinct genetic programs. Branchiomeric craniofacial muscles regulate jaw opening and closing, facial expression and laryngeal and pharyngeal function. These muscles correspond to th[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Faralli H ; Caubit X ; Coré N ; Fasano L | 2008Muscle growth and repair depend on Satellite Cells (SCs), myogenic stem cells located between the plasma membrane and the basal lamina of the myofiber. When muscles are damaged, SCs become activated, proliferate and differentiate to form multinu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laurent FX ; Marie J | 2008Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by an expanded CTG repeat sequence in the 3’ untranslated region of the DMPK gene. One of the most typical features is the disruption of alternative splicing of several pre-mRNA [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Roumes H ; Daury L ; Cottin P ; Brustis JJ | 2008Ubiquitous calpains (µ- and m-calpain) are proteases of which enzymatic and structural properties are well characterized. Their implication in the early stages of myogenesis and more particularly in the fusion and migration of myoblasts seems we[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pinset C | 2008The general objective of cell therapy techniques is to replace population of deficient cells to restore the functions of damaged tissue due to disease or traumatism. Cell therapy technologies and methods have already beed developed for muscle di[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gitiaux C ; Christov C ; Bassez G ; Dimitri D ; Authier FJ ; Gherardi R | 2008DM is considered as an humorally-mediated disease specifically targeting endomysial capillaries , but its pathophysiology remains uncertain. Recently, plamacytoid dendritic cells have been found in perimysium providing novel insights into immuno[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Khattar P ; Decostre V ; Catelain C ; Schwartz K ; Fiszman M ; Bonne G ; Vilquin JT | 2008Purpose: Islet-1+ cells are cardiogenic and angiogenic progenitors participating to heart formation. The first aim was to locate and quantify these cells in view of potential pre-clinical developments. The second aim was to compare their presenc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Konig S ; Bader CR ; Bernheim L | 2008Our work is based on human primary myoblast cultures derived from single satellite cells. Human myoblasts are able to proliferate for several weeks in culture, and terminal differentiation into myotubes can be induced by serum withdrawal. In hum[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Beroud C ; Hamroun D ; Desmet FO ; Lalande M ; Tuffery-Giraud S ; Humbertclaude V ; Collod-Béroud G ; Claustres M | 2008The development of new genotype based therapeutic approaches has reinforced the interest about Locus Specific Databases (LSDB). This field is a crossroad of bioinformatics, genetics, clinics and research and many initiatives have been developed [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maisonobe T ; Suominen T ; Eymard B ; Udd B | 2008Laing early-onset distal myopathy (MPD1) is an autosomal dominant myopathy due to mutations within the slow skeletal muscle fibre myosin heavy chain, MYH7. We report the phenotype of a French family with four affected individuals on two generati[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Méjat A ; Decostre V ; Renou L ; Kesari A ; Stewart CL ; Bonne G ; Hoffman E ; Misteli T | 2008The LMNA gene encodes lamins A and C, two intermediate filament type proteins that are important determinants of interphase nuclear architecture as they play essential roles in maintaining the integrity of the nuclear envelope and chromatin stru[...]