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 :
AFM
|
Documents disponibles provenant de ce congrès (565)
Article
Laminopathies include a wide range of heterogeneous diseases involving different tissues, ranging from isolated peripheral neuropathies to systemic, premature aging diseases as Hutchinson-Gilford Progeria. Since the first involvement of the LMNA[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bernard D ; Prasanth KV ; Sedel F ; Triller A ; Spector DL ; Bessis A | 2008During physiological development of spinal cord, half of the motoneurons die few days after their generation. It has been shown that motoneurons are not committed to death but rather acquire the competence to die upon a transient microglial TNF?[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pouget J | 2008Amyotrophic Lateral Sclerosis (ALS) remains an intriguing neurodegenerative disorder and we do net yet understood its pathogenesis. The discovery of the Cu, Zn superoxyde dismutase gene (SOD1) mutation in 20% of familial cases dramatically modif[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Volpi L ; Calsolaro V ; Falorni M ; Siciliano G | 2008Limb girdle muscular dystrophies (LGMD) represent a group of muscle diseases characterized by genetic and clinical heterogeneity. At the moment, seven autosomal dominant and 12 autosomal recessive loci have been identified. We characterized the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buyse G ; Van der Mieren G ; Erb M ; D'Hooge J ; Herijgers P ; Verbeken E ; Jara A ; Van Den Bergh A ; Mertens L ; Courdier-Fruh I ; Barzaghi P ; Meier T | 2008Background - Duchenne muscular dystrophy (DMD) is a severe and still incurable disease, with heart failure as a major cause of death. The identification of a disease-modifying therapy may require early-initiated and long-term administration, but[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bendahhou S ; Sacconi S ; Arrighi N ; Larroque MM ; Chapon F ; Vicart S ; Sternberg D ; Fontaine B ; Barhanin J ; Desnuelle C | 2008Andersen’s syndrome (AS) is a rare disorder that manifests with a triad: periodic paralysis, cardiac arrhythmia, and development anomalies. Muscle weakness is a feature of this disease that has been reported in two-thirds of the patients. The KC[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Delbono O ; Xia J ; Treves S ; Wang ZM ; Jimenez-Moreno R ; Paine A ; Messi LM ; Nishi M ; Briguet A ; Schaerer F ; Takeshima H ; Zorzato F | 2008Skeletal muscles from young adult mice containing homozygous deletion of the gene for the sarcoplasmic reticulum protein JP-45 were studied and compared to age-matched wild-type litter mates. Analysis of spontaneous motor activity with a running[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Côte C ; Bassem H ; Hébert L ; Janier M ; Puymirat J | 2008The aim of the study was to evaluate if a typical pattern of muscular involvement could be identified, and if correlation exists between severity of MRI anomalies and clinical findings. MRI findings were edema and fatty degeneration, ranging fro[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lesault PF ; Gherardi K ; Tremblay P2 ; Chazaud B | 2008Main limitations to efficient cell therapy in skeletal muscle include massive cell death, limited diffusion and poor fusion of the transplanted cells. Numerous attempts of myogenic cell transplantation in skeletal muscle have been performed in b[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Couette M ; Boissé MF ; Gherardi RK ; Brugières P ; Chevalier X ; Cesaro P ; Maison P ; Bachoud-Lévi AC ; Authier FJ | 2008Macrophagic myofasciitis (MMF) is an emerging condition, characterized by specific muscle lesions assessing long-term persistence of aluminum hydroxide within macrophages at the site of previous immunization. Affected patients mainly complain of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Le Panse R ; Cizeron-Clairac G ; Ruhlmann N ; Bismuth J ; Truffault F ; Berrih-Aknin S | 2008Early-onset Myasthenia Gravis (MG) with anti-AChR antibodies is commonly associated with thymic hyperplasia, characterized by the presence of germinal centers (GC) containing B cells producing pathogenic antibodies. We demonstrate a specific and[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bartoli M ; Gicquel E ; Barrault L ; Soheili T ; Malissen M ; Malissen B ; Udd B ; Danos O ; Richard I | 2008Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human ?-sarcoglycan gene (SGCA). We introduced in mice the most prevalent LGMD2D mutation, R77C. Unexpectedly, we ob[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Worman HJ | 2008Cardiac disease is a prominent feature of Emery-Dreifuss muscular dystrophy (EDMD), with the initial presentation being atrioventricular conduction block followed by dilated cardiomyopathy. Autosomal dominant EDMD and related cardiomyopathies ar[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rose MR | 2008There are several motivations for the increasing interest in assessing quality of life (QoL) in chronic long term conditions such as neuromuscular disease (NMD). Many NMDs are not treatable, and even those that are may have persistent morbidity [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mezghrani A ; Barbara G ; Monteil A ; Lory P ; Nargeot J | 2008Aminoglycycosides compounds can read-through to premature termination codon mutations and appear an interesting therapeutic approach for some genetic diseases. Indeed, clinical studies have been initiated for cystic fibrosis and muscular dystrop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vandebrouck A ; Domazetovska A ; Cooper ST ; Ilkovski B ; North KN | 2008Protein aggregates or rods are the primary pathological feature in nemaline myopathy. Mutations in the gene encoding skeletal muscle ?-actin (ACTA1) are responsible for about 20% of nemaline myopathy cases associated with cytoplasmic rods, as we[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Messina S ; Mazzeo A ; Bitto A ; Aguennouz M ; Migliorato A ; De Pasquale MG ; Squadrito F ; Vita G | 2008Soy isoflavones have been reported to have antioxidant bioactivities, scavenging free radicals and increasing antioxidant protein expression, and also to inhibit the transcription factor NF-kB. We showed in previous studies that the inhibition o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; della Gaspera B ; Armand AS ; Lécolle S ; Charbonnier F ; Chanoine C | 2008The myocyte enhancer factor 2 (MEF2) family of MADS (MCMI, agamous, deficiens, serum response factor)-box transcription factors has four members in vertebrates, MEF2A, -B, -C and –D. The four MEF2 genes are expressed in complex and overlapping p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cabaniols JP ; Smith J ; Galetto R ; Gouble A ; Perez C ; Epinat JC ; Arnould S ; Duclert A ; Duchateau P ; Pâques F | 2008Most current gene therapy strategies for inherited diseases are based on a complementation approach: a virus-borne functional copy of the mutant gene is randomly inserted into the genome, resulting in a phenotypic correction of the genetic defec[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hibaoui Y ; Roulet E | 2008Oxidative stress-induced mitochondrial dysfunction has been shown to play a crucial role in the pathogenesis of a wide range of diseases including muscle disorders. Protecting mitochondrial function, therefore, is vital for cells to survive. In [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lecourt S ; Marolleau JP ; Fromigué O ; Vauchez K ; Ternaux B ; Lacassagne MN ; Robert I ; Praud C ; Andriamanalijaona R ; Boumediene K ; Chereau F ; Marie P ; Larghero J ; Fiszman M ; Vilquin JT | 2008Purpose: The comprehension of the human skeletal muscle development, homeostasis and physiopathology, and the set up of new therapeutic tools, mandate the cellular investigation of skeletal muscle compartments. In situ, we assessed the phenotype[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nury D ; Barbry P | 2008Genetic cardiomyopathies are predominant among rare diseases. They often originate from mutations in early cardiac transcription factors. Human Embryonic stem (HES) cells represent a key developmental model which recapitulate early cardiogenesis[...]Article
Modification of proteotoxicity associated to neuromuscular diseases : genetic analysis in C. elegans
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pasco M ; Catoire H ; Tourette C ; Parker A ; Néri C | 2008The goal of our study is to identify signalling pathways and networks that may modify proteotoxicity associated to neuromuscular diseases. The rationale of our study is that genetic/biological modifiers of proteotoxicity may constitue a useful s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Spitali P ; Fabris M ; Falzarano S ; Sabatelli P ; Bovolenta M ; Neri M ; Martoni E ; Tuffery-Giraud S ; Claustres M ; Cuisset J ; Gualandi F ; Rimessi P ; Ferlini A | 2008Exon skipping by antisense oligonucleotides (AONs) represents a promising tool successfully used for reframing dystrophin as demonstrated in a recent pilot trial in DMD patients. Since all the effort has been focused on favourable exons skipping[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laporte J ; AlQusairi J ; Boehm J ; Buj Bello A ; Hnia K ; Jamet T ; Kretz C ; Nicot AS ; Tosch V ; Toussaint A ; Mandel JL | 2008Centronuclear (myotubular) myopathies (CNM) are characterized by muscle weakness and abnormal centralisation of nuclei in muscle fibres, which does not appear secondary to regeneration. The severe neonatal X-linked form (myotubular myopathy, XLC[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Notarnicola C ; Le Guen L ; de Santa Barbara P | 2008Despite significant advances in the description of molecular controls of gut development in different animal models, little works have been done on the pathways involved during visceral smooth muscle cell differentiation. This differentiation is[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Saillour Y ; Mercier S ; Avril-Delplanque A ; Daoud F ; Nusbaum P ; Leturcq F ; Kaplan JC ; Dreyfus PA ; Cossee M ; Garcia L ; Bienvenu T ; Chelly J | 2008Duchenne Muscular Dystrophy (DMD) is the most severe form of dystrophinopathy, in which null mutations in the DMD gene (mostly frameshifting deletions, and nonsense point mutations) result in the complete absence of dystrophin. A milder phenotyp[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Salort-Campana E ; Figarella-Branger D ; Pellissier JF ; Krahn M ; Pouget J | 2008OBJECTIVE: To determine the distribution of subtypes of Limb-Girdle Muscular Dystrophy (LGMD) among patients in South-East of France. To determine the proportion of patients in whom a molecular diagnosis was available. BACKGROUND: LGMD are a het[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benhassine T ; Hamadouche T ; Assami S ; Makri S ; Chaouch M ; Tazir M | 2008Proximal spinal muscular atrophy (SMA) are a group of motor neuropathies characterized by the degeneration of spinal montoneurons leading to muscular paralysis with muscular atrophy. They are the second most fatal autosomal recessive disease, wi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bonello-Palot N ; Latour P ; Martini N ; Mayençon M ; Pêcheux C ; Mégarbané A ; Attarian S ; Pouget J ; Bernard R | 2008Charcot-Marie-Tooth neuropathies (CMT), also known as hereditary motor and sensory neuropathies (HMSN), are a group of genetically and clinically heterogeneous diseases of the peripheral nervous system. 40 genes and more than 60 loci have been i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Wan L ; Kasim M ; Wang C ; Cho S ; Bachorik J ; Cho Y ; Dreyfuss G | 2008The SMN complex, comprised of the survival of motor neurons (SMN) protein and the Gemins, plays a central role in cellular RNA metabolism. The SMN complex is essential in all cells and functions as a molecular assembly machine for the biogenesis[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Bestandji K ; Boulefkhad A ; Abadi N ; Benlatreche C ; Hamri A | 2008Introduction: Spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders, characterized by degeneration of anterior horn cells in the spinal cord, and leads to progressive muscular weakness and atrophy In the present s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hinard V ; Leroy M ; Bader CR ; Bernheim L | 2008Myoblasts are mononucleated cells that fuse together to form skeletal muscle fibers. We have shown previously that human myoblast differentiation requires a hyperpolarization of the resting membrane potential to take place. This hyperpolarizatio[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Scicchitano B ; Toschi A ; Murfuni I ; Molinaro M ; Adamo S | 2008The maintenance of a working skeletal musculature is conferred by its remarkable ability to regenerate after mechanical or pathological injury. However muscle atrophies are characterized by the progressive loss of muscle tissue due to alteration[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hamadouche T ; Delague V ; de Sandre-Giovannoli A ; Bernard R ; Génin E ; Benhassine T ; Tazir M ; Chaouch M ; Nouioua S ; Kassouri N ; Amer E ; Kheddoud W ; Vallat JM ; Grid D | 2008Hereditary motor and sensory neuropathies (HMSN), commonly referred to as Charcot-Marie-Tooth disease (CMT), are among the most common inherited neurological diseases, with an overall prevalence of about 1-4/10,000. While all modes of inheritanc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vauchez K ; Baligand C ; Vilquin JT ; Fiszman M ; Carlier P | 2008Purpose: High spatial resolution and non-invasiveness feature NMR imaging, and may allow longitudinal assessment of cell therapies. However, cells must be pre-loaded with an appropriate NMR contrast agent (CA). We compared the ability of two cla[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mignard C ; Charlin C ; Mignard D ; Roelens P | 2008In Reunion Island, we followed fifty ataxic patients every six months during eight years, from November 1999 to July 2007, using the same protocol. 1 The work protocol: Patients were included regardless of the stage of their disease. They were r[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fougerousse F ; Giannesini B ; Durand M ; Guerchet N ; Bendahan D ; Cozzone PJ ; Richard I | 2008We aim at characterizing muscle function in a cohort of different animal models for LGMD2 using mechanical parameters in several isolated muscles. Non invasive techniques will also be applied such as grip, escape or wire tests and measurements o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Amendola J ; Durand J | 2008The early mechanisms leading to the progressive loss of motoneurons during ALS are still unknown. Using the in vitro preparation of brainstem/spinal cord isolated from wild-type and SOD1G85R transgenic mice (ALS model), we have recently reported[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Galan L ; Vela A ; Guerrero A ; Taxonera C ; Matias-Guiu J | 2008INTRODUCTION Inflammatory Bowel Disease (IBD) presents many neurological complications. Up to 3% of patients with IBD have neurological involvement (Thromboembolic phenomena, myelopathy, myopathy, multiple sclerosis and various neuropathies). Ju[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Singh S ; Aurangabadkar K ; Goyal V ; Sharma MC ; Sarkar C ; Behari M | 2008Background –Muscle histopathology may be inconclusive because of the patchy muscle involvement in inflammatory myopathies. Imaging techniques may be of use in selecting the exact site for biopsy. Objective – To evaluate the role of muscle Magnet[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Siala O ; Nacim L ; Chahnez T ; Madeleine M ; Ahmed R ; Faouzi B ; Faiza F | 2008Studying the impact of genomic variations on mRNA metabolism became a central issue to better understand the biological significance of diseases. The objective of our study was to understand the effect of genomic mutations in LAMA2 gene on mRNA [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Friedrich A ; Garnier N ; Blandin G ; Bettler E ; Richard I ; Moulinier L ; Poch O | 2008The MS2PH project (from Structural Mutation to Human Pathologies Phenotypes) aims at investigating how mutations impact protein structures and to which extent this change could affect pathological phenotypes. This project is part of the Decrypth[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Brule C ; Dargelos E ; Cottin P ; Poussard S | 2008The calcium-dependent proteolytic system is composed of cysteine proteases named calpains. They are ubiquitous or tissue-specific enzymes and the two best characterised isoforms are the ubiquitously expressed µ- and m-calpains. Besides its regul[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mouisel E ; Hourde C ; Vignaud A ; Butler Browne G ; Ferry A | 2008Aging results in a deterioration of muscle structure and function in dystrophic mdx mice lacking dystrophin. In the present study we wanted to know whether this aggravation is associated with an age related decline in regenerative capacity. Both[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arsic N ; Mamaeva D ; Lamb N ; Fernandez A | 2008Stem cells with the ability to differentiate in specialized cell types can be extracted from a wide array of adult tissues including skeletal muscle. Here we have characterized a population of stem cells from skeletal muscle that can be reproduc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vulin A ; Barthelemy I ; Goyenvalle A ; Lorain S ; Thibaud JL ; Bertoldi D ; Carlier P ; Dreyfus P ; Danos O ; Blot S ; Garcia L | 2008Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder due to mutations in the gene encoding dystrophin. Most of mutations consist in large deletions, although their size is not correlated with the severity of the phenotype. Out-of-[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vulin A ; Barthelemy I ; Dreyfus P ; Blot S ; Garcia L | 2008Duchenne Muscular Dystrophy (DMD) is an X-linked recessive disorder due to mutations in the gene that encodes dystrophin. Most of these mutations consist in large genomic deletions, although their extent is not directly correlated with the sever[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mouisel E ; Vulin A ; Hourde C ; Dumonceaux J ; Relaix F ; Garcia L ; Amthor H | 2008Previously, we have shown that null mutation of myostatin resulted in muscle fibre hypertrophy that is independent of satellite cell activity. Here, we investigated the effect of myostatin blockade in mature mouse muscle. Myostatin was blocked a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Laurent E ; Borel P ; Hogrel JY ; Bousquet N ; Fougerousse F ; Stockholm D ; Calpain Study Group | 2008In the Natural History of Calpainopathies study (F Fougerousse's communication), 37 patients were subjected to Computed Tomography (CT) scans of lower limbs at the beginning of the investigation and 2 years later. The objective was to quantify m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Baligand C ; Wary C ; Menard J ; Bertoldi D ; Giacomini E ; Carlier PG | 20081H-NMR imaging combined with arterial spin labeling (ASL) provides dynamic, quantitative and non invasive measurements of muscle perfusion as well as blood oxygenation level dependent (BOLD) contrast. In Parallel, 31P-NMRS has long been used to [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rouger K ; Dubreil L ; Fornasari B ; Delorme B ; Jouvion G ; Leroux-Goubault I ; Ledevin M ; Deschamps JY ; Cherel Y | 2008The last decade, multi-lineage stem cells encountered in various adult tissues have been described as exhibiting myogenic potential in experimental conditions. These stem cells include Side Population cells, mesoangioblasts, CD133+ progenitors a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Christov C ; Chrétien F ; Abou Khalil R ; Bassez G ; Valet G ; Authier FJ ; Bassagla Y ; Shinin V ; Tajbakhsh S ; Chazaud B ; Gherardi R | 2008Understanding how stem cell niches are organized in vivo and what interactions their progeny develop with neighbouring cell types is a critical issue in stem cell biology. Sublaminar location led to identification of muscle satellite cells (SCs)[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Graham K ; Singh R ; Millman G ; Malnassy G ; Berge J ; Gatti F ; Carlson CG | 2008Hydroxyproline assays were used to assess developmental changes in fibrosis in mdx and nondystrophic mice. In both adult nondystrophic and mdx mice, hydroxyproline levels (?g hydroxyproline/mg wet weight) were significantly higher in the costal [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maciotta S ; Meregalli M ; Farini A ; Belicchi M ; Parolini D ; Bresolin N ; Torrente Y | 2008DMD is caused by frameshift mutations in the gene encoding for dystrophin. These mutations are responsible for the loss of function of the dystrophin protein that leads to membrane destabilization and subsequent activation of pathophysiological [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lehtokari VL ; Lunkka-Hytönen M ; Kellinsalmi M ; Pelin K ; Wallgren-Pettersson C | 2008Mutation detection in nemaline myopathy (NM) is challenging due to the size of the main causative gene, nebulin (NEB), with 183 exons. Using denaturing high performance liquid chromatography (dHPLC) we have identified 91 different exonic and int[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Monnier N ; Drouhin S ; Marty I ; Jouk PS ; Labarre-Vila A ; Mezin P ; Lunardi J | 2008Background: Mutations in genes coding for thin filament components have been identified in structural congenital myopathies including nemaline myopathy, congenital fibre type disproportion, Cap disease and actin myopathy. Nemaline myopathies (NM[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dunand M ; Borruat FX ; Botez S ; Roux-Lombard P ; Kuntzer T | 2008Introduction: in myasthenia gravis (MG), thanks to therapeutic advances, one should aim at a complete or near complete remission within a few months, allowing patients to return to habitual professional and social life. This stage has to be main[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vilquin JT ; Marolleau JP ; Hagège A ; Larghero J ; Schwartz K ; Menasché P | 2008Cell grafting is a potential approach to improve cardiac healing and limit the progression of heart failure, which is characterized by a rapid and irreversible loss of cardiomyocytes. Many cell types have been tested. Myoblasts, being skeletal m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Kelly RG | 2008The embryonic heart grows by addition of progenitor cells of the recently identified second heart field to the arterial and venous poles of the cardiac tube. Second heart field cells are situated in pharyngeal mesoderm and characterized by diffe[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coisy-Quivy M ; Bourret A ; Fort P ; Mercier J ; Philips A | 2008Identifying and characterizing key elements of sarcomeric signal transduction and their roles in the control of myofibrillogenesis are essential to elucidate basic mechanisms of the cell biology of muscle, leading to a molecular understanding of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pisani D.F ; Dechesne CA ; Desnuelle C ; Belmonte N ; Delplace S ; Cochet O ; Bagnis C ; Di Santo J ; Kurzenne JY ; Dani C ; Sacconi S | 2008Myoblast transplantation in clinical trials is based on intramuscular injection of a population of muscle-derived cells. Up to date, homogeneity of this population throughout culture has been evaluated using the CD56 marker. According to our dat[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Petersson SJ ; Frandsen U ; Jensen CH ; Kassem M ; Schroeder HD | 2008Human EBs were co-cultured with C2C12 mouse myoblasts to investigate if the myogenic cells could direct the embryonic stem cells into myogenic differentiation. In vitro EB differentiation is disorganized and frequently varies from one EB to anot[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Goudenege S ; Pisani DF ; Dani C ; Dechesne CA | 2008We have previously shown that human multipotent adipose-derived stem (hMADS) cells have a myogenic potential. They contribute to skeletal muscle regeneration after transplantation into mdx mouse muscle although only a very small proportion of ce[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Olsson A ; Lind L ; Thornell LE ; Holmberg M | 2008A hereditary metabolic myopathy with paroxysmal myoglobinuria was described by Larsson et al. 1964 (1). The patients showed low physical performance, resulting in physical exertion that causes early exhaustion, dyspnoea, and palpitations. Eviden[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Oldfors O | 2008Myopathies which primarily affect the thick filament protein myosin may be hereditary or aquired. Hereditary myosin myopathies are a newly emerged group of diseases caused by mutations in skeletal muscle myosin heavy chain (MyHC) genes. The phen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arne-Bes MC ; Delrieu J ; Uro-Coste E ; Cintas P ; Attal M | 2008Patients who have been treated with bone marrow transplantation and survived beyond 100 days often have chronic graft-versus-host disease (GVHD). Myositis or myopathy is usually rare in chronic GHVD. We report a 31-year-old woman who had myositi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vernus B ; Carnac G ; Tassistro V ; Koechlin C ; Mornet D ; Hugon G ; Bonnieu A | 2008Myostatin is an endogenous, negative regulator of muscle growth determining both muscle fiber number and size. Recently, inhibition of this pathway has emerged as a promising therapy for muscle wasting although more details of myostatin regulati[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chelh I ; Meunier B ; Picard B ; Reecy J ; Chevalier C ; Hocquette JF ; Cassar-Malek I | 2008Myostatin (MSTN), a member of the TGF-beta superfamily, is a negative regulator of skeletal muscle mass. Inactivating mutations of the MSTN gene are responsible for the development of a hypermuscular phenotype in mice (McPherron et al., 1997) an[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Badsi D ; Oudrer N ; Zentout H ; Litim K ; Oubaiche M | 2008Introduction Myotonic dystrophy (MD1) is the most common form of adult muscular dystrophy with autosomal dominant transmission. It is an inherited disease in which there is an abnormal expansion of CTG trinucleotide repeat at 19q13.3 It is manif[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pou A ; Pascual J ; Corominas JM ; Martorell L | 2008Background: A number of patients with molecularly confirmed DM2 diagnosis proved to have had fybromialgia as their previous diagnosis. It seems possible that some families with DM2 phenotype have neither mutation. Objectives: To show how a myoto[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Decostre V ; Khouzami L ; Varnous S ; Caramelle P ; Perier M ; Adamy C ; Arimura T ; Salmon A ; Enond C ; Meune C ; Pecker F ; Bonne G | 2008Emery-Dreifuss muscular dystrophy (EDMD) is characterized by cardiac dysfunction and dilation associated with skeletal muscle defects. It is caused by mutations in the LMNA gene encoding the nuclear proteins lamin A/C that form a meshwork under [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Urtizberea JA ; De Munain LA ; Mignard C ; Boué P ; Doppler V ; Hogrel JY ; Stockholm D ; Payan C ; Poza J ; Bousquet N ; Richard I ; Fougerousse F ; Calpain Study Group | 2008The determination of the natural history is a prerequisite to any future clinical trial in a given myopathy. This is particularly true in calpainopathy where the individual disease progression may markedly vary and where the course itself seems [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hirn C ; Shapovalov G ; Roulet E | 2008Duchenne Muscular dystrophy (DMD) is manifested by the absence of dystrophin – a structural, cytoskeletal protein – leading to muscle degeneration. Whereas the rise of cytosolic Ca2+ concentration has been extensively documented in the muscle of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Authier FJ ; Dimitri D ; Bassez G ; Mouthon L ; Guillevin L ; Gherardi RK | 2008Necrotizing myopathy (NM) is an acquired condition histopathologically characterized by scattered necrotizing fibers at various stage of injury or healing (acute necrosis, myophagocytosis, basophilic fibers, centronucleation), with no or only mi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Shafey D ; Liu H ; Bowerman M ; Kothary R | 2008Spinal muscular atrophy (SMA) is the most common genetic disease resulting in infant mortality. SMA manifests itself due to a severe loss of ?-motor neurons and is caused by mutations or deletions of the ubiquitously expressed survival motor neu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martinez Perea MDC ; Liste H ; Ruggiero M ; Andrada L ; Canaveris G | 2008INTRODUCTION: The physicians need to be aware of the NMD and physiological flight conditions. The primary difference between the aircraft and ground is the barometric pressure reduced. Although most healthy travelers can compensate for this hypo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Labarre-Vila A ; Mezin P ; Monnier N ; Vergnaud S ; Baguet JP ; Wuyam B ; Chabre O ; Toussaint B ; Lunardi J | 2008We describe the case of a young algerian patient, now 27 years old, whose parents are cousins and one of his 5 brothers died suddenly during an effort at the age of 18 years. From age of 7 years, he complains of muscle fatigability, nausea and o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Giannesini B ; Izquierdo M ; Le Fur Y ; Cozzone PJ ; Fingerle J ; Himber J ; Künnecke B ; Von Kienlin M ; Bendahan D | 2008Introduction. Magnetic resonance (MR) techniques have proven their ability to investigate skeletal muscle function in situ. However, in animal research, the benefit provided by MR techniques in terms of non-invasiveness is lost because of the ut[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hnia K ; Gayraud G ; Lacampagne A ; Koechlin C ; Hugon G ; Rivier F ; de la Porte S ; Mornet D ; Matecki S | 2008L-Arginine was proposed as a potential pharmacological tool in Duchenne muscular dystrophy (DMD), a progressive-muscle wasting disease due to mutations in the dystrophin gene. Despite the beneficial effect on L-arginine on muscle weakness and fo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dimitrov A ; Quesnoit M ; Moutel S ; Cantaloube I ; Poüs C ; Pérez F | 2008Microtubules are highly dynamic tubulin polymers essential for intracellular organization and cell division. They display a dynamic instability, alternating phases of growth and shrinkage separated by catastrophe and rescue transitions. Tubulin [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lahoute C ; Sotiropoulos A ; Favier M ; Guillet-Deniau I ; Schmitt A ; Metzger D ; Tuil D ; Daegelen D | 2008The Serum Response Factor (SRF) is a crucial transcription factor for muscle-specific gene expression. We previously demonstrated that SRF is needed for postnatal skeletal muscle growth. To further investigate the role of SRF in adult skeletal m[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Makri S ; Vilma-Lotta L ; Terki N ; Laing NG ; Wallgren-Pettersson C | 2008Nemaline myopathy (NM) is a rare congenital myopathy characterized by muscle weakness and the presence of nemaline (rod) bodies in the muscle fibers. NM is a genetically heterogeneous condition of which rigid spine syndrome is a rare feature. He[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Noguiez-Hellin P | 2008One way to design drugs for neuromuscular diseases goes through gene therapy products from Biodrugs list. Regarding the regulatory legislation, gene therapy products are considered as pharmaceutical products and their manufacturing requires comp[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nejjari M ; Janier M ; Gourdon G ; Puymirat J ; Hiba B | 2008Introduction: Mouse models are now widely used for drug discovery and muscle disorder studies (e.g. myopathy). Therefore a quantitative method to determine muscle volume in vivo will help us for the follow-up of the muscle disease. In the presen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Roques C ; Bouchemal K ; Salmon A ; Fattal E ; Fromes Y | 2008Gene transfer is an interesting therapeutic approach for inherited muscular dystrophies with no curative treatment currently available. Nevertheless, DNA does not freely cross the membranes as it is a hydrophilic, negatively charge macromolecule[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arnold AS ; Handschin C | 2008Spinal muscular atrophy (SMA) is characterized by a mutation in the survival motor neuron (SMN) gene, leading to a deficit of expression of the SMN protein, a ubiquitously expressed protein which exact function is unknown. It results in motoneur[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hutchison C ; Salpingidou G ; Markiewicz E | 2008Emerin is a type II integral membrane protein of the inner nuclear membrane and was the first nuclear membrane protein to be implicated in muscular dystrophy. Mutations in the gene STA, which encodes emerin, underlie the X-linked form of Emery D[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Aebischer J ; Moumen A ; Pettmann B ; Raoul C | 2008Death pathways restricted to specific neuronal classes could explain the selectivity of neuronal loss in neurodegenerative diseases, such as the loss of motoneurons in amyothrophic lateral sclerosis (ALS). We previously showed that Fas-induced d[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pedemonte M ; D'Apice MR ; Ottonello C ; Conte G ; Mattioli G ; Scapolan S ; Novelli G ; Minetti C | 2008X-linked myotubular myopathy is a rare disease, characterised by neonatal hypotonia, muscle weakness and respiratory distress in affected males, leading often to early death. It is caused by mutations in the MTM1gene, localised on the long arm o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Raheem O ; Huovinen S ; Suominen T ; Haapasalo H ; Udd B | 2008Introduction The ATPase properties of different muscle fiber types is widely used for histochemical diagnostic purposes. The ATPase staining method has a central position in most routine muscle biopsy diagnostic laboratories. However, the method[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nouioua S ; Bernard R ; Hamadouche T ; Vallat JM ; Tazir M | 2008Autosomal recessive forms of Charcot-Marie –Tooth disease are clinically and genetically heterogeneous. One locus, termed CMT4F, showing similarities to Déjerine- Sottas syndrome, was mapped to 19q13.3 in a large consanguineous Lebanese family a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Douillard-Guilloux G ; Batista L ; Raben N ; Caillaud C ; Richard E | 2008Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by defects in the lysosomal acid alpha-glucosidase (GAA) gene. It is characterized by glycogen accumulation, especially in skeletal muscle and he[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Lattanzi G ; Camozzi D ; Schena E ; Columbaro M ; Bonne G ; Wehnert M ; Squarzoni S | 2008Laminopathies are a heterogeneous group of human disorders linked to mutations in the LMNA gene encoding A type lamins or in genes encoding lamin A-associated proteins. Numerous mutations of the LMNA gene cause overlapping clinical phenotypes, s[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cadot B ; Gache V ; Gomes E | 2008Nuclear movement during myofiber formation The formation of a myofiber requires the fusion of myoblasts to form a myotube which then differentiate into a mature myofiber. During all these steps, the position of the nuclei changes: during the for[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gotic I ; Naetar N ; Biadasiewicz K ; Stewart C ; Foisner R ; Perutz MF | 2008Lamina-Associated Polypeptide 2 (LAP2) alpha belongs to a family of nucleoskeletal proteins that bind to chromatin and lamins. While the majority of lamins forms a scaffolding network at the nuclear envelope supporting nuclear architecture, A-ty[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jeannet PY ; Spehrs-Ciaffi V ; Aminian K ; Paraschiv-Ionescu A | 2008While new therapies for neuromuscular disorders are being investigated, it is also important to develop new tools to quantify the potential effects of such therapies. Devices recording the patient’s daily physical activity in their natural envir[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Hiba B ; Richard N ; Hébert L ; Vial C ; Saulnier J ; Nejjari M ; Remec JF ; Côte C ; Bouhour F ; Puymirat J ; Janier M | 2008An objective assessment of disease progression and muscle damage is required to prove therapies for muscle degeneration. In this context, we propose an objective MRI-based method for the assessment of the Tibias Anterior (TA) muscle degeneration[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Stefanovic S ; Abboud N ; Desilets S | 2008The embryonic stem cell (ESC) specific protein Oct-4, is one of the earliest transcription factor in the embryo. Together with Sox2 and Nanog, Oct-4 cooperatively maintains the pluripotency of ESC through a tightly regulated transcriptional loop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Meier T ; Erb M ; Meinen S ; Barzaghi P ; Ruegg M | 2008Background: Mutations in LAMA2, the gene encoding the laminin-alpha2 chain of the extracellular matrix of muscle cells, cause a rare and severe form of congenital muscular dystrophy, called MDC1A. The disease is characterized by early onset, pro[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Csibi A ; Lagirand-Cantaloube J ; Offner N ; Leibovitch MP ; Barboiron C ; Picard B ; Leibovitch S | 2008Skeletal muscle size depends upon a dynamic balance between anabolic and catabolic processes. The E3 ubiquitin-ligase MAFBx/Atrogin-1 is upregulated during muscle atrophy caused by a variety of conditions, including cancer, AIDS, stress, diabete[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Riederer I ; Negroni E ; Bencze M ; Wolff A ; Savino W ; Butler-Browne GS ; Silva-Barbosa S ; Mouly V | 2008Myoblast transplant therapy (MTT) can be envisioned as a clinical alternative in the treatment of certain diseases. The problems that still remain to be solved to improve the efficiency of MTT are the massive early cell death, the limited prolif[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Benabdallah BF ; Bouchentouf M ; Rousseau J ; Tremblay JP | 2008Duchenne muscular dystrophy is caused by the absence of functional dystrophin protein, leading to the myofiber membrane instability and progressive muscle atrophy. Myoblast transplantation in dystrophic muscles is a potential therapy for the dis[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gross DA ; Vignaud L ; Da Rocha Rodrigues S ; Gjata B ; Charles S ; Georger C ; Scherman D ; Israeli D | 2008Transplantation of muscle precursor cells (MPC) into dystrophic muscle is a major therapeutic approach in muscular dystrophies. However the clinical benefit of this approach is seriously compromised by the low survival rate of the transplanted c[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ramachandran U ; Saleki K ; Marlow G ; Anderson L ; Bashir R | 2008The dysferlin gene is mutated in autosomal recessive Miyoshi myopathy, Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and distal anterior compartment myopathy resulting in deficiency of the protein in patient muscle. Dysferlin is a sarcolemmal [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mercuri E | 2008Increasing attention has been devoted in the last few years to the use of functional scales and other assessments of muscle function and strength in neuromuscular disorders. A range of good functional outcome measures already exist which are rea[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Frédéric M ; Clot F ; Blanchard A ; Dhaenens CM ; Lesca G ; Cif L ; Durr A ; Vidailhet M ; Sablonnière B ; Calender A ; Brice A ; Claustres M ; Tuffery-Giraud S ; Collod-Béroud G | 2008Early-Onset Torsion Dystonia (EOTD) are rare movement disorders developing in childhood with a neurological origin. They begin in a limb and potentially spread to other parts of the body to become generalized. Molecular defect is known for only [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; van Zoggel J ; Alabanese P ; Jacobs MS ; Courty J ; Papy-Garcia D ; Morin C ; Martelly I | 2008Overproduction of reactive oxygen species has been implicated in cellular defect that may lead to apoptosis. Skeletal muscle cells are frequently submitted to oxidative stress upon excessive exercise or in disease. Although cells withstand oxida[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gasnier E ; Bigot A ; Mouly V ; Furling D | 2008Myotonic Dystrophy type I (DM1) is caused by a CTG expansion in the 3’-UTR of the DMPK gene and is characterized by progressive muscle weakness and wasting. Large CTG repeats affect the differentiation program and we have showed that the prolife[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Klein AF ; Ebihara M ; Alexander C ; Dicaire MJ ; Rouleau GA ; Brais B | 2008Oculopharyngeal muscular dystrophy (OPMD) is a late-onset autosomal dominant disease caused by expansions of a (GCN)10/polyalanine tract in the gene coding for the Poly(A) Binding Protein Nuclear 1 (PABPN1). The pathological hallmark of the dise[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Krahn M ; Wein N ; Lostal W ; Bourg-Alibert N ; Nguyen K ; Courrier S ; Vial C ; Labelle V ; De Petris D ; Borges A ; Mattéi MG ; Roudaut C ; Miyake K ; Mcneil P ; Cau P ; Leturcq F ; Bartoli M ; Richard I | 2008Primary dysferlinopathies are a heterogeneous group of autosomal recessive muscular dystrophies, caused by mutations in the large-sized DYSF gene encoding dysferlin. Dysfunction of dysferlin causes deficient sarcolemmal repair and leads to muscl[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Poitelon Y ; Baudot C ; Hamadouche T ; Delague V | 2008Lamins, a class of intermediate filaments, are major components of the nuclear lamina, a filamentous network underlying the inner face of the nuclear membrane. A-type Lamins are encoded by the same gene: LMNA, regulated by the AP1 complex (c-Fos[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Parolini D ; Meregalli M ; Belicchi M ; Farini A ; Razini P ; Maciotta S ; Torrente Y | 2008Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease due to a deficiency in dystrophin, a 427kDa protein located at the sarcolemma and acting as a linker between cytoskeleton and extracellular matrix Several observations sugg[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Abadi N ; Benlatreche C ; Koeing M ; Hamri A | 2008INTRODUCTION Myotonic dystrophy (MD1).is the most common form of adult muscular dystrophy with autosomal dominant transmission. It is an inherited disease in which there is an abnormal expansion of CTG trinucleotide repeat at 19q13.3. It is mani[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sifi Y ; Sifi K ; Boulefkhad A ; Abadi N ; Benlatreche C ; Hamri A | 2008Introduction: Pompe disease (PD), is caused by a deficiency of the enzyme lysosomal, acid-glucosidase (GAA) resulting in the accumulation of glycogen primarily in muscle tissue. The clinical presentation of (PD) is variable with respect to the a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Desguerre I ; Christov C ; Mayer M ; Zeller R ; Bécane HM ; Leturcq F ; Chelly J ; Gherardi R | 2008Innovative therapies are presently being developed for DMD. Evaluating their effect will require precise knowledge of both the natural history and factors influencing the course of a disease which can be no longer considered as homogeneous in te[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nouioua S ; Magy L ; Hamadouche T ; Rautenstrauss B ; Grid D ; Assami S ; Vallat JM ; Tazir M | 2008Giant axonal neuropathy (GAN) is a recessively inherited neurological disorder affecting both central and peripheral nervous system. The main pathological hallmark of the condition is abnormal accumulation of intermediate filaments in giant axon[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Birouk N ; Bouhouche A ; Belaidi H ; Benomar A ; Azzeddine H ; Dubourg O ; Maisonobe T ; Yahyaoui M ; Le Guern E ; Ouazzani R | 2008Mutations in GDAP1 gene located in 8q13 chromosome have been identified in families with either axonal or demyelinating form of autosomal recessive Charcot-Marie-Tooth (CMT) disease. Twenty five patients belonging to 14 Moroccan consanguineous f[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Birouk N ; Bouhouche A ; Belaidi H ; Slassi I ; Benomar A ; Azzeddine H ; Maisonobe T ; Dubourg O ; Yahyaoui M ; Le Guern E ; Ouazzani R | 2008The most frequent form of axonal autosomal recessive Charcot-Marie-Tooth neuropathy is a laminopathy. R289C is the only mutation descried so far in all reported families. This is a phenotype study of patients with R289C mutation in Lamin A/C gen[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pietri Rouxel F ; Gentil C ; Ferry A ; Vignaud A ; Garcia L | 2008Adipose infiltration is a characteristic common to many muscular dystrophies. In certain cases, the infiltration is such that all of the muscle fibers are replaced by adipocytes, preventing or at least limiting, the rational of gene or cell ther[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Goudeau B ; Simon S ; Casteras-Simon M | 2008Myofibrillar myopathies (MFM) are rare inherited neuromuscular disorders characterized by adult onset and the accumulation of aggregates containing desmin in cardiac and/or skeletal muscle cells. MFM patients present clinical and genetic heterog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Thorel D ; Méchin D ; Beroud C ; Rivier F ; Coubes C ; Jouk PS ; Leturcq F ; Cossee M ; Tuffery-Giraud S ; Claustres M ; Khau Van Kien P | 2008In the families with a reported case of dystrophinopathy, pedigree analysis with measurement of blood creatine phosphokinase (CK) are commonly used for genetic risk assessment of relatives. Several affected cases in the same family across genera[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Llorens A ; Diaz-Ramos MA ; Lopez-Alemany R | 2008The Plasminogen Activation (PA) system is a group of serin-proteases that plays an important role in a wide range of biological processes in which tissue remodelling takes place. Plasmin, generated by activation of its zymogen plasminogen, is a [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Diaz-Ramos A ; Llorens A ; Lopez-Alemany R | 2008The plasminogen activation (PA) system is a group of serine proteases that participate in tissue remodeling by degrading most of components of the extracellular matrix. Different studies have shown that PA system components (plasminogen and urok[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Leblanc A ; Bondoin L ; Marcorelles P ; Blanchard C ; Zagnoli F | 2008In polymyositis, CD8 cells recognise unknown antigen linked to HLA. But in some cases, this antigen can be identified. A sixty years old Caribbean woman complained for progressive walking disability for ten years, without pain. In 2007, physical[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Paushkin S | 2008PTC Therapeutics, Inc. (PTC) has established a new program to identify compounds that modulate the levels of the survival of motor neuron (SMN) protein at the post-transcriptional level. The program is driven by three innovative approaches. The [...]Article
Practical education in biology for genetic disease associations : a french action unique in europe !
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mathieu M ; Karlin D ; Thimonier J ; Langlet C ; Hammond C | 2008Rare diseases associations are increasingly interested and involved in research, from which they hope to gain better knowledge and prevention of their disease. Because the time scales of research and patients waiting for treatments intrinsically[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; van Deutekom JCT ; de Kimpe SJ ; Ekhart PF ; van den Akker JTHM ; Sitsen JMA ; Janson JAM ; de Winter C ; Aartsma Rus A ; van Ommen GJB ; Verschuuren JJM ; Goemans NM ; Platenburg GJ | 2008Duchenne muscular dystrophy (DMD) patients suffer from a progressive, severe muscle-wasting disease due to frame-disrupting mutations in the DMD gene and a complete loss of functional dystrophin. Antisense oligonucleotide compounds (AONs) have r[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Dimitrova V ; Gibert B ; Diaz-Latoud C ; Arrigo AP | 2008To date, 3 mutations (R120G, Q151X and 464?CT) in the gene encoding ?B-crystallin have been identified as responsible of Myofibrillar Myopathies then called ?B-cristallinopathies (Selcen and Engel, 2003; Vicart et al., 1998). In order to develop[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sweeney HL | 2008Nonsense mutations promote premature translational termination and cause anywhere from 5 to 70% of the individual cases of most inherited diseases. To address the need for a drug capable of suppressing premature termination, we developed PTC124,[...]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 | 2008Duchenne muscular dystrophy (DMD) is characterized by a progressive destruction and ultimate disappearance of the skeletal muscle parenchyma, which is replaced by adipose and fibrous connective tissue. Previous reports about the involvement of n[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Attarian S ; Pouget J ; Schmied A | 2008In view of the conflicting results about the links between lower and upper motor neurons (LMN, UMN) dysfunction in amyotrophic lateral sclerosis (ALS), our objective was to correlate their changes over time. Single motor units (MUs) were charact[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vignaud A ; Ferry A ; Gourdon G ; Huguet A ; Butler-Browne GS ; Furling D | 2008Myotonic dystrophy type 1 (DM1) is caused by the amplification of a CTG repeat and is characterized by a wide spectrum of clinical manifestations affecting skeletal muscle such as progressive weakness, wasting and myotonia. In order to investiga[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Mondin L ; Sebille S ; Balghi H ; Constantin B ; Raymond G ; Cognard C | 2008Evidence is presented for the involvement of IP3-dependent release calcium pathway in the contribution of calcium overload in dystrophin-deficient cells. Our previous results presented that global calcium release during stimulation (K+-evoked ca[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Chaze T ; Meunier B ; Chambon C ; Jurie C ; Picard B | 2008Pre-natal period is crucial for muscle development in large species such as Bos taurus since the most part of differentiation process is completed at birth. Previous bovine studies displayed developmental stages representative of particular myog[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Salama I ; Milman I ; Mitrani-Rosenbaum S | 2008Hereditary inclusion body myopathy (HIBM) is a unique group of neuromuscular disorders characterized by adult onset and slowly progressive distal and proximal muscle and a typical histology including rimmed vacuoles and filamentous inclusions. T[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bouazza B ; Gonnet F ; Mouly V ; Perie S ; Lacau Saint Guily J ; Svinartchouk F ; Butler Browne G | 2008Oculo-pharyngeal muscular dystrophy (OPMD) is an adult onset disorder (40-50 years) characterised by progressive eyelid drooping (ptosis) and swallowing difficulties (dysphagia). This autosomal dominant disease is caused by an amplification of a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Renvoisé B ; Hamaï S ; Montagne JJ ; Gendron MC ; Lefebvre S | 2008Spinal muscular atrophy (SMA) is caused by mutations of Survival Motor Neuron 1 (SMN1) gene, which lead to reduction of SMN protein levels. The ubiquitous SMN complex participates to the biogenesis of spliceosomal core snRNPs and together are en[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Köster D ; Sinha B ; Sens P ; Nassoy P ; Lamaze C | 2008During stretching, muscle cells are rapidly elongated which causes an increase of membrane area and surface tension. To avoid membrane rupture during this process, reservoirs of rapid available membrane should act as a buffer. We have focused ou[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ollivier G ; Touita Kabbaj A ; Canal A ; Roques S ; Hogrel JY | 2008Many techniques and methods exist to evaluate the functional capacity of patients suffering from neuromuscular disorders. Because each evaluator/physiotherapist (PT) has different skills and because each trial centre has different tools and prac[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vuillerot C ; Hodgkinson I ; Bérard C ; Ecochard R ; d'Anjou MC ; Commare MC | 2008Little is known about quality of life of adolescents with neuromuscular diseases or the factors that influence it. We searched whether physical impairment, physical disability, and medical complications were predictors of low quality of life. Mo[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Thibaud JL ; Bertoldi D ; Monnet A ; Barthelemy I ; Blot S ; Carlier PG | 2008The Golden Retriever Muscular Dystrophy dog lacks dystrophin and shares pathological and clinical similarities with the Duchenne patients. The model, increasingly used in pre-clinical trials, needs to be further characterized. We defined NMR ima[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cedile O ; Popa N ; Pollet-Villard X ; Monti G ; Bagnis C ; Durbec P ; Boucraut J | 2008More and more experiments show the role of immune cells and immunological molecules in the physiology of the nervous system including neurogenesis. A better knowledge of interactions between immune cells and neural stem cells is important for im[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gobin-Limballe S ; Djouadi F ; Aubey F ; Olpin S ; Andresen BS ; Fukao T ; Wanders RJ ; Kim JJ ; Bastin J | 2008Very-Long-Chain-AcylCoA (VLCAD) deficiency is one of the more common mitochondrial ß-oxidation defect, without treatment to date, with three distinct phenotypes including neonatal-onset severe cardiomyopathy, liver failure in infancy, or adolesc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Koulmann N ; Crassous B ; Richard-Bulteau H ; Deldicque L ; Serrurier B ; Pasdeloup M ; Francaux M ; Bigard X | 2008Recent studies have shown that creatine supplementation (Cr) may enhance muscle functional capacity in patients with neuromuscular diseases, disuse atrophy or muscular dystrophies. Because it has been shown in culture cells that the fusion of my[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Brinas L ; Gartioux C ; Ledeuil C ; Chaouch S ; Quijano Roy S ; Makri S ; Merlini L ; Topaloglu H ; Roelens F ; Hovers V ; Jeannet PY ; Estournet B ; Richard P ; Guicheney P ; Allamand V ; French Research Network On Congenital Muscular Dystrophy F | 2008Autosomal recessive and dominant de novo mutations in the three genes (COL6A1, COL6A2 and COL6A3) encoding the extracellular matrix protein collagen VI (COL6) cause Ullrich Congenital Muscular Dystrophy (UCMD). This early onset disorder is chara[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nancy P ; Kerlero de Rosbo N ; Berrih-Aknin S | 2008In myasthenia gravis (MG), there is a clear relationship between thymic pathology and gender, with thymic hyperplasia affecting essentially young female patients (9:1). We have demonstrated that the expression of alpha and beta estrogen receptor[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Halter B ; De Aguilar GJL ; Fricker B ; Rene F ; Deroide N ; Petri S ; Echaniz-Laguna A ; Dengler R ; Loeffler JP | 2008Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neuromuscular disease characterized by selective degeneration of upper and lower motor neurons, progressive muscle wasting, and paralysis. Some familial cases are caused by missense muta[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Abou Khalil R ; Gherardi K ; Chazaud B | 2008Satellite cells are now considered as true stem cells as they both participate to skeletal muscle repair by contributing to the formation of new myofibres and provide new quiescent satellite cells or reserve cells presenting the same properties.[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sabourin J ; Magaud C ; Lamiche C ; Rivet J ; Sebille S ; Cognard C ; Bourmeyster N ; Constantin B | 2008Duchenne Muscular Dystrophy is a neuromuscular disease which leads to a progressive degenerescence of muscles. This disease results from the lack of dystrophin, a protein localized to the cytoplasmic face of the sarcolemma. The lack of dystrophi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Miura P ; Coriati A ; Sarkar M ; Andrews M ; Holcik M ; Jasmin B | 2008Glucocorticoids are currently the only drugs recognized to benefit Duchenne muscular dystrophy (DMD) patients. The mechanisms that underlie the beneficial effects still remain incompletely understood. In agreement with previous observations, we [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Zupan A ; Praznikar A ; Sardoc M | 2008Neuromuscular diseases are inherited, chronic, degenerative and progressive. The main characteristics of neuromuscular diseases are: muscular weakness, contractures, scoliosis, respiratory insufficiency, cardiac affection, nutrition disturbances[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Espigat-Georger A ; Merdes A | 2008During the differentiation process, a drastic rearrangement of the microtubular cytoskeleton occurs in muscular cells. While in myoblasts, the microtubules radiate from the centrosome, they adopt a linear array parallel to the axis of the cell i[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sachot S ; Rolling F ; Moullier P ; Le Guiner C | 2008Background: An approach to restore protein function involves the recombination of two RNA molecules in trans by a mechanism named Spliceosome Mediated RNA Trans-splicing (SMaRTTM), in which splicing occurs between two independently transcribed p[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Auda-Boucher G ; Rouaud T ; Rouger K ; Fontaine-Perus J ; Cherel Y ; Gardahaut MF | 2008We previously showed that CD34+ mouse fetal muscle-derived cells transplanted into mdx dystrophic mice efficiently regenerate skeletal muscle and improve its function. Following several reports on the existence of heterogeneity in CD34+ adult mu[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Simon S ; Michiel M ; Skouri-Panet F ; Lechaire JP ; Tardieu A | 2008The missense mutation Arg-120 to Gly (R120G) in the human ?B-Crystallin sequence is associated with autosomal dominant myopathy, cardiomyopathy, and cataract (Vicart et al., 1998). Previous studies of the mutant showed a significant ability to a[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Berbey C ; Weiss N ; Legrand C ; Allard B | 2008A Ca2+ influx is known to occur in skeletal muscle cells at rest. The study of this influx is of primordial interest since an exacerbated resting Ca2+ entry has been considered to represent an early step associated with the pathophysiological ch[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dabertrand F ; Macrez N ; Mironneau J ; Henaff M ; Morel JL | 2008RESTORATION OF THE CALCIUM SIGNALING IN MDX MOUSE DUODENUM MYOCYTES BY GENTAMYCIN SULFATE TREATMENT AND DYSTROPHIN EXON SKIPPING. We have previously described that the loss of dystrophin expression in duodenum myocytes from mdx mouse induces the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Porrello E ; Capotondo A ; Triolo D ; Sampaolesi M ; Brunelli S ; Comi G ; Ruegg M ; Biffi A ; Quattrini A ; Previtali S | 2008Congenital Muscular Dystrophy (CMD) is characterized by progressive wasting muscular dystrophy and dysmyelinating neuropathy with variable involvement of the central nervous system, which may lead to severe disability in early childhood. The mos[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Finkel R ; Bertini E | 2008Hypothesis: Parental surveys in pediatric neuromuscular disorders provide useful data when considering clinically meaningful responses to treatment, generating standard of care guidelines and in designing effective clinical trials. Design/Method[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Coirault C ; Mamchaoui K ; Allamand V ; Mouly V ; Bonne G | 2008There is increasing agreement that 3D culture of skeletal muscle satellite cells and myoblasts holds great promise to investigate pathophysiological mechanisms and to test therapeutic strategies for neuromuscular disorders. However, the construc[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Durand S ; Pomiès P ; Fabbrizio E ; Lejeune F ; Bonet-Kerrache A | 2008Duchenne muscular dystrophy (DMD) is a severe X-linked muscle degenerative disease caused by mutations or deletions in the dystrophin gene leading to absence of the protein. The members of the Rho family of small GTPases are molecular switches t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Fortier M ; Comunale F ; Kucharczak J ; Blangy A ; Charrasse S ; Gauthier Rouviere C | 2008Differentiation of skeletal myoblasts into multinucleated myotubes is a multi-step process orchestrated by several signaling pathways. The Rho small G protein family plays critical roles both during myogenesis induction and myoblast fusion. We r[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Spehrs-Ciaffi V ; Richard P ; Lobrinus JA ; Jeannet PY | 2008Introduction: Rigid spine syndrome is a non specific term used to describe patients presenting early rigidity of the spine due to axial muscle contractures, muscle weakness, limb-joint contractures and often respiratory failure. It is seen in ri[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Gomes Pereira M ; Huguet A ; Acquaire J ; Nicole A ; Foiry L ; Munnich A ; Gourdon G | 2008Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy, with a worldwide incidence of 1 in 8000. Although traditionally regarded as a muscle disease, DM has also emerged as a brain disorder. DM type 1 (DM1) is caused by the [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Röder I ; Lissandron V ; Martin J ; Choi K ; Zaccolo M ; Rudolf R | 2008Fragmentation of the neuromuscular junction (NMJ) and a dramatically shortened halflife of the acetylcholine receptor are hallmarks of dystrophic mdx muscle. Since cyclic AMP (cAMP) mediated signalling is thought to be important for aspects of N[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Roder IV ; Petersen Y ; Rudolf R | 2008Myosin Va is known as molecular motor involved in vesicular transport and its functional absence leads to lethal conditions in humans (Griscelli and Elejade syndromes) and rodents (dilute phenotype). We thus examined the role of myosin Va in the[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Pessina P ; François S ; Azzoni E ; Brunelli S | 2008Muscular dystrophies are heterogeneous diseases characterized by a primary wasting of skeletal muscle. Replacement of diseased muscles with new healthy and functional muscle fibers has been for a long time a major therapeutic strategy for muscul[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Solly S ; Allenbach Y ; Grégoire S ; Dubourg O ; Salomon B ; Butler-Browne GS ; Musset L ; Herson S ; Klatzmann D ; Benveniste O | 2008Background: Polymyositis (PM) is a rare and severe inflammatory muscle disorders. Corticosteroids and other immunosuppressive drugs are partially efficacious and have many side effects. Regulatory CD4+CD25+ T cells (Treg) have been rediscovered [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Richard A ; Favier M ; Guillet-Deniau I ; Maire P | 2008Previous studies have shown the importance of Six homeoproteins in different steps of myogenesis. Six homeoproteins control Pax3, myogenin and MRF4 genes in the embryo as well as aldolase A gene which is expressed specifically in fast glycolytic[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Galmiche G ; Mericskay M ; Blanc J ; Li Z | 2008Vascular smooth muscle cells (VSMCs) anomalies are directly involved in different forms of myopathies including Duchene myopathy and desminopathies. The alteration of cytoskeletal mechanostransduction and transcriptional pathways play an importa[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Dhamane E ; Gallo C ; Petermann O ; Roulet E | 2008Calcium dysbalance is expected to be one of the triggering events causing muscular degeneration in Duchenne muscular dystrophy (DMD). It has been proposed that the increased Ca2+ influx could result from transient membrane lesions (Menke et al.,[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Bendahan D ; Monnier N ; Foutrier-Morello C ; Kozak G ; Lunardi J ; Cozzone PJ | 2008Malignant hyperthermia (MH) is a potentially fatal pharmacogenetic disease triggered by commonly used volatile anaesthetics and/or succinylcholine. In vitro muscle contracture testing (IVCT) is the gold standard test to establish an individual's[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nishino I | 2008RYR1 has been associated with central core disease, in addition to multiminicore disease and malignant hyperthermia (MH). However, the frequency of RYR1 mutations in central core disease and its genotype-phenotype correlation was not clear. Our [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Toromanoff A ; Cherel Y ; Guilbaud M ; Penaud-Budloo M ; Snyder R ; Haskins M ; Deschamps JY ; Guigand L ; Podevin G ; Arruda V ; High K ; Stedman H ; Rolling F ; Anegon I ; Moullier P ; Le Guiner C | 2008We developed in the nonhuman primate (NHP) a drug-free regional intravenous (RI) delivery protocol of recombinant adeno-associated virus (rAAV) 1 and 8 to an entire limb and compared it with the intramuscular (IM) delivery of the same dose of ve[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Ono Y ; Zammit P | 2008Homeostasis, hypertrophy and repair of adult skeletal muscle are carried out by resident stem cells called satellite cells, located on the surface of the myofibre, below the ensheathing basal lamina. Normally mitotically quiescent, satellite cel[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Finkel R | 2008The ideal scale for the assessment of a patient with a neuromuscular disorder incorporates functionally meaningful items, can be administered briefly and without expensive equipment by trained evaluators, is sensitive to change within a six to t[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Cognard C ; Constantin B ; Duclohier H ; Sebille S | 2008Since the cytoskeleton provides the cell with structure and shape, and participates in building specialized domains with specific functions, it will be interesting to compare the membrane surface topography in control muscle cells with the one o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Walter MC | 2008In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named 'scapuloperoneal syndrome type Kaeser'. By genetic analysis of[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Colasse S ; Khoobarry K ; Renvoisé B ; Lefebvre S | 2008Infantile spinal muscular atrophy (SMA) is an inherited disorder characterized by the degeneration of spinal motor neurons and progressive muscular atrophy. There is no cure for SMA. The SMA disease is caused by mutations of the survival motor n[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Guillery O ; Pucelle M ; Florence M ; Lombès A ; Rojo M | 2008Charcot-Marie-Tooth disease (CMT) is a frequent, genetically heterogeneous group of peripheral neuropathies. Mutation of the MFN2 gene provoke CMT2A, and probably represent the commonest cause of CMT2. The deficiencies provoked by MFN2-mutations[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Angeard N ; Gargiulo M ; Jacquette A ; Radvanyi H ; Eymard B ; Heron D | 2008Background Previous studies have shown variable degree of cognitive impairment in the childhood form of DM1 (Steayert et al., 1997; Gossens et al., 2000). It ranges from mental retardation to subnormal intelligence but dysfunction in verbal work[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Sacconi S ; Vilquin JT ; Salviati L ; Fabbri G ; Tupler R ; Teusan R ; Lecunff M ; Leger J ; Desnuelle C | 2008Background FSHD is an autosomal dominant myopathy characterized by selective muscle involvement. We previously demonstrated that, in contrast with myoblastes issued from non affected territories, FSHD myoblastes from affected territories display[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Richard PL ; Gosselin C ; Paradis M ; Goulet M ; Tremblay JP ; Skuk D | 2008Intramuscular transplantation of muscle-precursor cells in nonhuman primates and humans requires meticulous repetitive injections. Performed with single syringes operated manually throughout large regions, the procedure takes a lot of time, beco[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Saugier-Veber P ; Vezain M ; Melki J ; Toutain A ; Bieth E ; Husson M ; Pedespan JM ; Viollet L ; Pénisson-Besnier I ; Frebourg T ; Tosi M | 2008Different therapeutic strategies are currently evaluated in spinal muscular atrophy (SMA) that are aimed at increasing full-length (FL) mRNA levels produced from the SMN2 gene. Of course, an inverse correlation between SMN2 copy number, SMN prot[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Rafai MA ; Boulaajaj F ; Jardel C ; Lombès A ; Bourezgui M ; El Moutawakil B ; Slassi I | 2008Introduction Mitochondrial cytopathies represent very heterogonous a group of affections related to a dysfunction of the respiratory chain of mitochondrion. Their expression is polymorphic and pluristemic. The progressive external ophtalmoplegia[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Martin-Moutot N ; Berthomieu M ; Seagar M | 2008Autoimmune responses against voltage-gated ion channels are suspected in several diseases, but evidence is compelling in the case of two: Lambert-Eaton myasthenic syndrome (voltage-gated Ca2+ channels, Cav) (O’Neill et al. 1988) and neuromyotoni[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Wahbi K ; Meune C ; Bécane HM ; Laforet P ; Bassez G ; Eymard B ; Duboc D | 2008Cardiac involvement is frequent in DM1 and represents the primary cause of death in 20 to 29% of patients. However, few data concerning cardiac complications in young DM1 patients are available. We report a series of 27 DM1 patients aged 10 to 2[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Maisonobe T ; Jardel C ; Tchikviladzé M ; Laforet P ; Hauw JJ ; Bouche P ; 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) ; Candelario-Martínez A ; Rodriguez Munoz R ; Mornet D ; Martinez-Rojas D | 2008Syntrophins are a family of scaffolding proteins with multiple domains that link signalling proteins to dystrophin family members (Dp71 in brain). Syntrophins can interact simultaneously with multiple proteins via two pleckstrin homology domains[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Arvanitis DA ; Dong M ; Zhao W ; Papalouka V ; Kranias EG ; Wang HS ; Sanoudou D | 2008Phospholamban (PLN), the reversible inhibitor of SERCA2, is a key regulator or calcium homeostasis and cardiac function, and it has been directly implicated in the development of dilated cardiomyopathy. Its amino acid sequence is highly conserve[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Richard A ; Niro C ; Demignon J ; Giordani J ; Grifone R ; Guillet-Deniau I ; Bajard L ; Daubas P ; Buckingham M ; Maire P | 2008Six proteins preferentially accumulate in the hypaxial myogenic progenitors of the dermomyotomes in the mouse embryo, and in the adult SIX proteins preferentially accumulate in the nuclei of fast/glycolytic muscle fibre. To understand the functi[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Niro C ; Demignon J ; Grifone R ; Giordani J ; Maire P | 2008The mechanisms that participate to the adult muscle slow fibre phenotype have been well characterized. These mechanisms emphasize resting calcium concentration as a key cofactor relaying slow motoneuron firing and controlling the activity of sev[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Jory A ; Tajbakhsh S | 2008Although much is known about skeletal muscle biology, we have only recently begun to appreciate how stem and progenitor cells establish this tissue through the action of key regulatory genes. In the mouse embryo, the dermomyotome (DM) harbors st[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Li Z ; Kollias H ; Wagner K | 2008Myostatin is a TGF-? family member that negatively regulates muscle growth. Studies in a mouse model of Duchenne and Becker muscular dystrophy (mdx) showed that deletion of myostatin gene or treatment with a postnatal inhibitor of myostatin sign[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Marcelle C ; Gros J ; Manceau M | 2008In amniotes, all skeletal muscles of the body and the limbs derive from mesodermal embryonic structures, named the somites. We utilize the electroporation of fluorescent reporter genes (e.g. GFP) in somites of chick embryos, combined with video-[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Paquette B ; Coté J | 2008Deletions or loss-of-function mutations in the Survival of Motor Neurons 1 (Smn1) gene in humans is responsible for Spinal Muscular Atrophy (SMA), one of the leading genetic causes of infant mortality. The pathological hallmarks of this disease [...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Buyse G ; Mertens L ; van den Hauwe M ; Thijs D ; De Groot I ; Schara U ; Ceulemans B ; Meier T ; Goemans N | 2008Objective - To evaluate efficacy and tolerability of treatment with SNT-MC17/idebenone compared to placebo in children with Duchenne muscular dystrophy (DMD). Background - Idebenone supports mitochondrial respiratory chain function and reduces o[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Vignaud A ; Mouisel E ; Hourde C ; Fougerousse F ; Butler-Browne GS ; Bacou F ; Chatonnet A ; Ferry A | 2008Acetylcholinesterase (AChE) plays an essential role in neuromuscular transmission. Not surprisingly, neuromuscular transmission during repetitive nerve stimulation is severely depressed in the AChE knockout mice (KO). However, it was not known w[...]Article
Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Essafi S ; Langs G ; Bassez G ; Deux JF ; Vignaud A ; Rahmouni A ; Paragios N | 2008The aim of this study is to evaluate a model based method for the automatic segmentation of human calf muscles in T1-MRI data. Recent advances in biomedical imaging have made possible the in-vivo non invasive visualization of anatomical and func[...]