Détail du congrès:
Congrès: Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) (26-30 mai 2008)
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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[...]