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Publication AFM
"Vivre, un mot qui résume bien le combat de notre association. Les programmes de recherche portés par notre Institut des Biothérapies nous font entrer dans l'ère des essais thérapeutiques, porteurs d'espoirs pour tous. Mieux vivre ou bien vivre [...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'e[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Publication AFM
Argumentaire pour la campagne Téléthon 2013Publication AFM
Le bilan neuropsychologique dans les maladies neuromusculaires permet d'explorer le fonctionnement cognitif d'une personne concernée par la maladie (enfant, adolescent ou adulte), qui rencontre des difficultés dans les apprentissages scolaires, [...]Publication AFM
Le ballon insufflateur manuel permet de ventiler manuellement et ponctuellement une personne en insufflant de l’air dans ses poumons. Cette ventilation de secours est utilisée lorsqu’un problème empêche la ventilation mécanique de se faire norma[...]Article
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Pour visualiser les articles en texte intégral : Cahier de Myologie N°7Article
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Barois A ; Estournet B ; Frischmann M ; Gargiulo M ; Reveillere C ; Quijano Roy S | AFM-TELETHON | 10/2012Article
Cuisset JM ; Maurage CA ; Moerman A ; Vallée L ; Bonne G ; Gueneau L ; Stojkovic T ; Dubourg O ; Richard P ; Lacene E ; Beuvin M | AFM-TELETHON | 10/2012Article
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SOMMAIRE p 3 - ÉDITORIAL HISTORIQUE/HISTORICAL NOTES p 5-11 - Le regard sur soi : une autre façon d’entrer en myologie (de Charles Darwin à Francis Bacon) Looking at oneself : another way to get in Myology (from Charles Darwin to Franci[...]Publication AFM
Ce document de référence à destination des professionnels de santé fait le point de l'ensemble des travaux, en particulier ceux de biologie moléculaire, qui permettent d'affiner et de faire évoluer la classification des maladies neuromusculaires[...]Publication AFM
Dans certaines maladies neuromusculaires, le cœur peut souffrir de différents troubles qui l'empêchent de jouer son rôle de pompe, et conduisent peu à peu à une insuffisance cardiaque : troubles du rythme, troubles de conduction et/ou dégénéresc[...]Publication AFM
Publication AFM
Une anticipation est nécessaire pour bien exprimer ses besoins. Aidez-vous en prenant comme base le cumul des aides humaines dont vous devez disposer à partir d’une journée type, et surtout ne minimisez pas vos besoins.Publication AFM
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Pour visualiser les articles en texte intégral Cahiers de Myologie n°6Article
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Les progrès scientifiques permettent, aujourd’hui, de mettre en place de plus en plus d’essais cliniques dans les maladies neuromusculaires (MNM). Les psychologues cliniciens sont ainsi conduits à s’intéresser à l’impact psychologique de ces e[...]Article
Romero NB ; Zanoteli E ; Bevilacqua JA ; Rosa A ; Medici M ; Butler Browne G ; Urtizberea JA | AFM-TELETHON | 04/2012Article
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Rivier F ; Urtizberea JA ; Mayer M ; Cances C ; Uro-Coste E ; Bieth E ; Leturcq F ; Richard P | AFM-TELETHON | 04/2012Article
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SOMMAIRE p 3 - ÉDITORIAL HISTORIQUE/HISTORICAL NOTES p 5-9 - Chirurgie et myopathies : rien ne peut être improvisé Surgery and myopathies : nothing can be improvised Jean Dubousset, Annie Barois, Ginette Duval Beaupère PHYSIOLOGIE/PH[...]Publication AFM
AFM-Téléthon, Auteur ; Juane Borreguero N, Auteur ; Sanchez-Trigo E, Auteur ; ASEM, Auteur | AFM-TELETHON | 03/2012Cuando se padece una enfermedad neuromuscular, puede resultar complicado el cuidado de los dientes. Estas enfermedades motricidad y en el desarrollo de la mandíbula, bucal que hará que el cepillado diario de los dientes y los cuidados dentales s[...]Publication AFM
Dans les maladies neuromusculaires, prendre soin de ses dents peut s’avérer compliqué. Les conséquences de la maladie retentissent sur la motricité et sur le développement de la mâchoire, créant un contexte buccal difficile pour le brossage des [...]Publication AFM
Reco PNDS
Ce guide, organisé en 20 fiches, décrit les obligations de l'employeur liées à l'embauche d'un salarié à domicile ainsi que les responsabilités qui lui incombe. Il a été rédigé par le FEDEM (Fédération des particuliers employeurs) en collaborati[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Publication AFM
Dans le souci d'optimiser la réponse aux malades et aux familles,l'AFM-Téléthon a mis en place depuis quelques années des groupes par maladies. Experts de leur pathologie, ces derniers s'ils jouent un rôle primordial en matière de soutien et d'[...]Historique AFM
Sommaire : Préambule Définition du Groupe d'Intérêt Missions des Groupes d'Intérêt Moyens et supports des Groupes d'Intérêt Devoirs des Groupes d'Intérêt envers les familles et l'association Organisation et fonctionnement du Groupe d'Intér[...]Publication AFM
Livre
The user manual is an essential tool for a rigorous scoring of each item and should be consulted throughout the MFM validation process. It gives all the information necessary for the validation of each of the 32 items (description of the starti[...]Publication AFM
Schanen-Bergot MO, Auteur ; Hammouda EH, Validateur ; Mazaltarine G, Validateur | AFM-TELETHON | Savoir & Comprendre | 01/2012La douleur est une sensation complexe qui est propre à chacun. Sa perception dépend d’un système neurophysiologique, le système nociceptif, qui intègre à la fois des données objectives comme la localisation du point douloureux, et d’autres donné[...]Publication AFM
Schanen-Bergot MO, Auteur ; Orlikowski D, Validateur ; Devaux C, Validateur | AFM-TELETHON | Savoir & Comprendre | 11/2011La ventilation non invasive (VNI) est proposée aux personnes atteintes d’une maladie neuromusculaire lorsque les premiers signes d’insuffisance respiratoire nocturne apparaissent. Le suivi médical régulier sur le plan respiratoire en consultatio[...]Article
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Salort-Campana E ; Pouget J ; Attarian S ; Dubois N ; de Sandre-Giovannoli A | AFM-TELETHON | 10/2011Article
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SOMMAIRE p 3 - ÉDITORIAL HISTORIQUE/HISTORICAL NOTES p 5-7 - Naissance de la dystrophie myotonique : une histoire très particulière Myotonic Dystrophy’s birth : a very peculiar story Guillaume Bassez p 8-10 - Dystrophie myotonique de [...]Publication AFM
La fabrication et l'adaptation du corset garchois demandent la rigueur et la précision d'une équipe expérimentée. Le corset garchois est classiquement réalisé en trois étapes : moulage en correction d'un négatif en plâtre, à partir duquel est ré[...]Publication AFM
Le corset garchois nécessite une surveillance très régulière par une équipe pluridisciplinaire : médecin, orthoprothésiste, kinésithérapeute, psychologue, assistante sociale, ergothérapeute, etc. Des consultations périodiques permettent de vérif[...]Publication AFM
Le corset garchois a été mis au point dans les années 60, à l’hôpital Raymond-Poincaré de Garches, pour traiter les scolioses paralytiques. Parfaitement adapté à toutes leurs spécificités, il concilie avec succès plusieurs objectifs thérapeutiqu[...]Publication AFM
Les récentes réformes législatives en matière de santé, telles la loi du 4 mars 2002 relative aux droits des malades et à la qualité du système de santé et la loi du 22 avril 2005 relative aux droits des malades et à la fi n de vie, ont fait évo[...]Article
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SOMMAIRE p 3 - ÉDITORIAL HISTORIQUE/HISTORICAL NOTES p 5-9 - René Couteaux ou la vision moderne de la jonction neuromusculaire René Couteaux or the modern vision of the neuromuscular junction Jacques Taxi PHYSIOLOGIE/PHYSIOLOGY p 1[...]Publication AFM
Si notre dos est fait pour bouger, il ne peut le faire n’importe comment. Notre gestuelle, en particulier celle que l’on utilise lorsqu’on porte une charge ou une personne, doit respecter sa physiologie. Soulever, porter, transférer ou repositio[...]Article
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AFM-TELETHON 2011Limb-girdle muscular dystrophies (LGMD) are a group of genetically heterogeneous muscular dystrophies grouped together on the basis of common clinical features: they all primarily and predominantly affect proximal muscles. Gene transfer to the m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pryadkina M ; Bourg N ; Lostal W ; Roche J ; Bloch R ; Borel P ; Stockholm D ; Richard I | AFM-TELETHON | 2011Deficiencies in dysferlin (DYSF) are responsible for two main progressive muscular dystrophies: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). This transmembrane protein was shown to play a role in the repair of the p[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hanisch F ; Hensel O ; Bock K ; Stoltenburg G ; Weis J ; Zierz S | AFM-TELETHON | 2011Background: Animal models and histopathological findings show glycogen accumulation and vacuolation in smooth muscles of the vessels in glycogenosis type II (Pompe disease). Several case reports had described cerebrovascular complications due to[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Renna LV ; Cardani R ; Malatesta M ; Giagnacovo M ; Pellicciari C ; Meola G | AFM-TELETHON | 2011Myotonic dystrophy (DM) is an autosomal dominant multisystemic disorder characterized by a variety of multisystemic features including myotonia, muscular dystrophy, cardiac dysfunctions, cataracts and insulin-resistance. One form of the disorder[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sitzia C ; Farini A ; Navarro C ; D'Antona G ; Belicchi M ; Parolini D ; Bottinelli R ; Meregalli M ; Torrente Y | AFM-TELETHON | 2011Limb Girdle Muscular Dystrophies (LGMDs) are a group of muscular diseases characterized by predominant weakness and wasting of muscles of the pelvic and shoulder girdle. LGMD-2B and MM were found to arise from defects in the dysferlin gene. In L[...]Article
Collagen VI-myopathies, caused by mutations in any of the three genes encoding collagen type VI (ColVI), represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy at each end of the spectrum. The sever[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mondielli G ; Conrod S ; Debarnot C ; Bougis P ; Bourne Y ; Marchot P | AFM-TELETHON | 2011Acetylcholinesterase (AChE) rapidly hydrolyzes the neurotransmitter ACh at central and peripheral synapses to restore the excitability of the postsynaptic membrane of neurons and muscles. AChE inhibitors are used to attenuate the cognitive or fu[...]Livre
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4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Neal A ; Boldrin L ; Morgan J | AFM-TELETHON | 2011Satellite Cells (SCs) are defined by their anatomical location between the sarcolemma and the basal lamina of muscle fibres. Evidence suggests that only a subpopulation of SCs function as muscle stem cells. Here we demonstrate that the number of[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Kaminsky P ; Poussel M ; Pruna L ; Chenuel B ; Brembilla-Perrot B | AFM-TELETHON | 2011Objective: The aim of the study was to identify, in addition to conduction defects, possible predictors of cardiac events and death in patients with myotonic dystrophy (DM1). Methods and design: A retrospective observational cohort study was und[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Vauchez K ; Catelain C ; Marolleau JP ; Schmid M ; Chapel A ; Khattar P ; Lecourt S ; Larghero J ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Human skeletal muscle is an essential source of cellular progenitors with potential therapeutic perspectives deserving further identification and characterization. Aldehyde dehydrogenase type 1A1 (ALDH) belongs to a large family of enzymes invol[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaillou T ; Koulmann N ; Simler N ; Meunier A ; Gregoire C ; Chapot R ; Serrurier B ; Beaudry M ; Bigard X | AFM-TELETHON | 2011IntroductionSkeletal muscle is susceptible to injury after either direct trauma, prolonged physical exercise including eccentric contractions, or resulting from indirect causessuch as neuromuscular diseases. A delay in the muscle regeneration pr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Piccoli M ; Franzin C ; Bertin E ; Repele A ; Blauuw B ; Urbani L ; André-Schmutz I ; Melki J ; Cavazzana-Calvo M ; Pozzobon M | AFM-TELETHON | 2011Mutations of the survival of motor neuron gene (SMN1) are responsible for Spinal Muscular Atrophy (SMA), a fatal neuromuscular disorder. Mice carrying homozygous deletion of Smn exon 7 directed to skeletal muscle (HSA-Cre, SmnF7/F7 mice), presen[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Simon J ; Krahn M ; Schaeffer S ; Landemore G ; Romero NB ; Leturcq F ; Françoise C | AFM-TELETHON | 2011A woman, born in 1962, with personal history of lombar pains and left sciatica in 2007 but without familial history, presented suddenly in 2007 pains in her left calf. CK were elevated (normal X 4). Myalgias with muscle-stiffness progressively e[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Yamina S ; Karima S ; Nouredine A ; Cherifa B ; Abdemadjid H | AFM-TELETHON | 2011Introduction Spinal muscular atrophy (SMA), the second most common lethal autosomal recessive disorder, has an incidence of 1/10,000 newborns. It is divided into acute Werdnig-Hoffmann disease (type I), intermediate form (type II), Kugelberg-Wel[...]Article
Myotubularin MTM1 is a phosphoinositide 3-phosphatase with specificity towards PtdIns3P (Phosphatidylinositol 3-Phosphate) and PtdIns(3,5)P2 (Phosphatidylinositol 3,5-bisPhosphate). Different mutations in the MTM1 gene cause a severe congenital [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sarkozy A ; Hicks D ; Hudson J ; Krause S ; Walter M ; Rufibach L ; Hwang E ; Illa I ; Van der Bergh P ; Bashir R ; Besnier-Penisson I ; Laval S ; Straub V ; Lochmuller H ; Bushby K | AFM-TELETHON | 2011Recessive mutations in the ANO5 gene cause limb girdle muscular dystrophy type 2L (LGMD2L). Patients with ANO5 mutations present with a pattern of proximal weakness affecting predominantly the pelvic girdle and leg muscles, associated with a les[...]Article
Conte TC ; Marlow G ; Boycott KM ; Saleki K ; Inoue H ; Kroon J ; Itakura M ; Robitaille Y ; Parent L ; Baas F ; Mizuta K ; Kamata N ; Richard I ; Linssen W ; Mahjneh I ; de Visser M ; Bashir R ; Brais B | AFM-TELETHON | 2011Our study of a large cohort of French-Canadian cases of late-onset recessive limb-girdle muscular dystrophies has demonstrated that there are still a large number of mutated genes to be uncovered that cause LGMD in this population. Some of these[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Joshi P ; Glaser D ; Hanisch F ; Stoltenburg G ; Zierz S ; Deschauer M | AFM-TELETHON | 2011Recessive mutations in the Anoctamin 5 (ANO5) gene have been recently identified in families with limb girdle muscular dystrophy (LGMD2L) and distal myopathy type Miyoshi. Molecular genetic testing is necessary to detect patients with anoctamino[...]Article
AFM-TELETHON 2011Antisense oligonucleotides (AOs) are able to modulate the splicing of the dystrophin pre-mRNA to correct the aberrant reading frame resulting from mutations in the dystrophin gene and thereby lead to the production of functional amounts of dystr[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gallais B ; Montreuil M ; Gargiulo M ; Eymard B | AFM-TELETHON | 2011OBJECTIVES: The aim of this study was to identify apathy levels, and to discuss the association of this condition with mood disturbances and neuropsychological manifestations in patients with Myotonic Dystrophy Type-1 (DM1).METHOD: we assessed 3[...]Article
Dystroglycan (DG) is a receptor for several extracellular matrix proteins, including laminin, perlecan and agrin, that provides structural stability to the plasma membrane [1]. In skeletal muscle cells, DG is the central component of the dystrop[...]Article
Hereditary inclusion body myopathy (HIBM) is a myopathy caused by recessive mutations in the UDP-N-acetylglucosamine 2-epimerase/ N-acetylmannosamine kinase gene (GNE), encoding the key enzyme in the biosynthetic pathway of sialic acid. In an at[...]Article
Subsets of patients with a large number of genetic disorders have disease due to a premature stop (nonsense) mutation in the coding sequence of a protein. Ataluren is an investigational drug designed to overcome the deleterious effects of nonsen[...]Article
In order for NMR imaging to detect early pathological changes with precision and reproducibility in diseased muscles, one needs quantitative imaging protocols. Unfortunately, inhomogeneities of static and rotating (B1) transmit and receive field[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hammaren E ; Kjellby-Wendt G ; Lindberg C | AFM-TELETHON | 2011Objective: The aim of this study was to map balance and gait deficits in relation to muscle strength, stumbles and falls. Methods: All adult walking individuals with classical or late-onset genetically proven DM1 between 20-60 years of age were [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Köster D ; Blouin C ; Sinha B ; Bigot A ; Butler Browne G ; Nassoy P ; Lamaze C | AFM-TELETHON | 2011Caveolae, the characteristic plasma membrane invaginations present in many cells, have been associated with numerous functions that still remain debated. The particular abundance of caveolae in cells experiencing mechanical stress led us to inve[...]Article
Gueneau L ; Crozet C ; Chikhaoui K ; Nelson I ; Beuvin M ; Demay L ; Richard P ; Romero NB ; Stojkovic T ; Eymard B ; T.Voit ; Ben Yaou R ; Bonne G ; Benyaou R | AFM-TELETHON | 2011The FHL1 gene, localized on the X chromosome, encodes the Four and a Half LIM proteins 1, proteins belonging to a protein family containing LIM domains (Lin-11, Isl-1, Mec3), that are highly conserved sequences constituted by two zinc fingers in[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schirwis E ; Mousiel E ; Alonso-Martin S ; Beley C ; Precigout G ; Garcia L ; Relaix F ; Amthor H | AFM-TELETHON | 2011Bone Morphogenetic Proteins (BMPs), a subfamily of signaling molecules of the TGF-beta family, and their antagonist Noggin regulate embryonic and fetal muscle growth. Moreover, a recent in-vitro study demonstrated that the signaling system BMP/N[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sternberg D ; Chevessier F ; Bassez G ; Behin A ; Echaniz-Laguna JA ; Eymard B ; Franques J ; Pereon Y ; Vicart S ; Hantaï D ; Fournier E | AFM-TELETHON | 2011Exercise-induced muscle stiffness occuring since childhood can be due to a genetic muscle excitability disorder. Electromyographic (EMG) examination allows to distinguish between non-dystophic myotonias (NDM, with typical myotonic bursts) and an[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Brignol TN | AFM-TELETHON | 2011Introduction Double blind randomization in rare neuromuscular diseases is extremely difficult to conduct, particularly if the tested "drug" has to be blind in design and to be compared to a placebo or a standard treatment which does not exist ye[...]Article
BackgroundDuchenne muscular dystrophy (DMD) is an inherited myogenic disorder due to mutations in the dystrophin gene on chromosome Xp21.1. It is characterised by progressive muscle wasting and weakness of variable distribution and severity. Hea[...]Article
AFM-TELETHON 2011Muscle responds to a wide variety of stressors by hypertrophic growth of myocytes. In various muscular disorders, this hypertrophic response may temporarily serve a compensatory role but becomes detrimental when prohypertrophic stimulation persi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Martinez Perea MDC | AFM-TELETHON | 2011The McArdle s disease (GSD V, MIM#232600) is the most common autosomal recessive disorder of glycogen metabolism. There are several mutations in the myophosphorylase gene (PYGM, MIM#608455). There is a clinical heterogeneity, with a wide clinica[...]Article
Centronuclear myopathies (CNM) are a group of congenital disorders characterized by hypotonia and typical skeletal muscle biopsies showing small rounded fibres with centralized nuclei. Three forms have been documented: the X-linked form with mut[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Portilho D ; Mendes F ; Costa M ; Butler Browne G ; Garcia J ; Savino W ; Mermelstein C | AFM-TELETHON | 2011Skeletal muscle differentiation is a multi-step process that begins with the commitment of mononucleated precursors that withdraw from cell cycle. These myoblasts elongate while aligning to each other, guided by the recognition between their mem[...]Article
Ljubicic V ; Ljubicic V ; Lunde J ; Boudreault L ; Khogali S ; Burt M ; Renaud JM | AFM-TELETHON | 2011A therapeutic approach for Duchenne muscular dystrophy (DMD) is to upregulate utrophin levels in skeletal muscle in an effort to compensate for the lack of dystrophin. We have previously hypothesized that promotion of the slow, oxidative myogeni[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lusakowska A ; Sulek-Piatkowska A ; Gogol A | AFM-TELETHON | 2011SBMA is rare, adult onset, X-linked recessive disease caused by CAG repeat expansion in AR gene. The main symptoms due to lower motor neuron involvement comprise slowly progressive weakness of extremity and bulbar muscles, fasciculation, cramps [...]Article
Eymard B, Auteur ; Sternberg D ; Richard P ; Fournier E ; Gaudon K ; Bauche S ; Koenig J ; Stojkovic T ; Baudouin H ; Ben Ammar A ; Chevessier F ; Huze C ; Herbst R ; Schaeffer L ; Romero NB ; Fardeau M ; Hantaï D | AFM-TELETHON | 2011Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The combination of clinical, electrophysiological[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Salort-Campana E ; Nguyen K ; Bernard R ; Sole G ; Niederhauser J ; Jouve E ; Fourquet I ; Fabre E ; Ollagnon E ; Sacconi S ; Echaniz-Laguna JA ; Duvocelle A ; Vial C ; Arne-Bes MC ; Desnuelle C ; Tranchant C ; Kuntzer T ; Ferrer X ; Besnier-Penisson I ; Pouget J ; Attarian S | AFM-TELETHON | 2011BACKGROUNDFacioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant myopathy associated with contraction of the subtelomeric D4Z4 repeat array on chromosome 4q.Two allelic variations of 4qter have been described. These variations, 4[...]Article
AFM-TELETHON 2011Spinal muscular atrophy (SMA), a recessive autosomal disorder, is one of the most common genetic causes of death in childhood. It is caused by mutations of the survival motor neuron (SMN) gene. We previously reported that Lentiviral vector expre[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Morgane G ; Antoine M ; Camille L ; Cecile M ; Marc P ; Remi V | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1) is an RNA-mediated disorder caused by a non-coding CTG repeat expansion that provokes functional alteration of CUG-binding proteins. Accordingly, several genes with misregulated alternate splicing of pre-mRNA have[...]Article
AFM-TELETHON 2011Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular junction (NMJ) disorders arising as result of mutations in different NMJ proteins. CMS are a very heterogeneous group of disorders; at present, mutations in more than 1[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Bangratz M ; Sarrazin N ; Davoine CS ; Fontaine B ; Devaux J ; Nicole S | AFM-TELETHON | 2011Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by permanent muscle stiffness and spontaneous activity in the rest electromyogram that appears during childhood and slowly progress until adulthood. SJS results from hypomorphi[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Agbulut O ; Chourbagi O ; Xue Z ; Paulin D | AFM-TELETHON | 2011Disorganization of the desmin network is associated with cardiac and skeletal myopathies characterized by accumulation of desmin-containing aggregates in the cells. Multiple associations of intermediate filament proteins form a network to increa[...]Article
Nguyen K ; Bernard R ; Walrafen P ; Attarian S ; Hayashi Y ; Pouget J ; Nishino I ; Krahn M ; Helmbacher F | AFM-TELETHON | 2011Facio-scapulo-humeral dystrophy (FSHD), including muscle and non-muscle features, is usually associated with the contraction of a repeat array (D4Z4) in the subtelomeric region of chromosome 4q (4q35). Because of a non-pathogenic variant of 4q a[...]Article
Foust K ; McGovern V ; Poresnsky P ; Bevan A ; Duque S ; Le T ; Iyer C ; Laporte A ; Alwine I ; Mitrpant C ; Wilton S ; Kaspar B | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is caused by loss of the SMN1 gene and retention of SMN2 which results in low SMN protein levels. We have mimicked this situation in mice creating mice with SMA. SMA mice can be corrected by expression of SMN in the[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Moraux A ; Costiou P ; Moullec S ; Servais L ; Le Guiner C ; Montus M ; Moullier P ; Fromes Y ; Voit T | AFM-TELETHON | 2011Golden Retriever Muscular Dystrophy (GRMD) is a very suitable animal model related to dystrophin deficiency. The phenotype of dogs is very close to the disease pattern in humans. Innovative therapies are thus being tested on dogs before a transf[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hogrel JY ; Canal A ; Ollivier G ; Decostre V ; Josserand E ; Alberti C ; Taoui I ; Simon D | AFM-TELETHON | 2011Unless neuromuscular maturation during growth is a key element, it has been poorly documented with respect to the biological development of children. The strength generation capacity of the muscles is one of the main maturation features. Most of[...]Article
Tanganyika-de Winter C ; van Putten M ; Karnaoek T ; van Deutekom J ; van Ommen GJ | AFM-TELETHON | 2011Antisense-mediated reading frame restoration is one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). It uses antisense oligonucleotides (AONs) to induce exon skipping during pre-mRNA splicing of mutated dystrop[...]Article
AFM-TELETHON 2011The number of genes associated with distal myopathies, i.e. muscle diseases showing a predominant distal weakness at onset or throughout the disease evolution, continues to increase. Currently 20 different entities of distal myopathy have been g[...]Article
Krahn M ; Dubourg O ; Bernard R ; Salort-Campana E ; Pascal L ; Maisonobe T ; Pénisson-Besnier I ; Pouget J ; Sacconi S ; Stojkovic T ; Urtizberea JA | AFM-TELETHON | 2011Distal myopathies are rare muscular disorders clinically characterized by a predominantly distal muscular involvement. In France, among recessive forms, the myopathy resulting from mutations in the UDP-N-acetylglucosamine-2-epimerase/N-aetlymann[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sandell S ; Palmio J ; Udd B ; Mahjneh I | AFM-TELETHON | 2011We have previously reported clinical, neuropathological and genetic findings in a large Finnish family with 7q36-associated autosomal dominant myopathy classified now as LGMD1D. After publishing we have discovered four more Finnish families with[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Scaal M | AFM-TELETHON | 2011The dermomyotome is the dorsal compartment of the somite which gives rise to multiple cell fates including skeletal muscle, connective tissue, and endothelia. It consists of a pseudostratified, roughly rectangular epithelial sheet, the margins o[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Suominen T ; Bachinski L ; Raheem O ; Haapasalo H ; Kress W ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n repeat expansion in the first intron of ZNF9 gene. The smallest reported expansion in leucocyte DNA with clinical phenotype consists of (CCTG)75 repeats. The repeat region is complex with bo[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Medja F ; Huguet A ; Vignaud A ; Ferry A ; Etienne M ; Butler Browne G ; Puymirat J ; Gourdon G ; Furling D | AFM-TELETHON | 2011Myotonic dystrophy type I (DM1) is a dominant disease caused by the expansion of an unstable CTG repeat in the 3' non-coding region of the DMPK gene. Transgenic mice carrying 45kb of the human DM1 locus with 300 CTG repeats were developed by G. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Mohamed Ismail H ; Petterman O ; Dorchies O ; Ruegg U | AFM-TELETHON | 2011Duchenne muscular dystrophy (DMD) is a progressive disease characterized by the absence of dystrophin due to a defect in the p21 band of the X chromosome. Lack of dystrophin expression causes muscle degeneration by a mechanism that remains elusi[...]Article
AFM-TELETHON 2011Although our understanding of the biology of pluripotent stem cells has expanded exponentially in the past few years, the translational arm of stem cell science is in a relatively primitive state. In the cardiovascular system, a number of clinic[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Biondi O ; Villemeur M ; Marchand A ; Chrétien F ; Bourg N ; Gherardi RK ; Richard I ; Authier FJ | AFM-TELETHON | 2011Dysferlinopathies are inherited myopathies characterized by a deficiency in dysferlin, a protein involved in plasma membrane repair process. Various clinical phenotypes/ modes of presentation are described, including LGMD2B, Myoshi-type distal m[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Xue Z ; Martins S ; Agbulut O ; Larcher JC ; Paulin D ; Li Z | AFM-TELETHON | 2011The mammalian synemin is a very unique intermediate filament (IF) gene encoding three isoforms (H, M and L) achieved by alternative mRNA splicing, exon skipping and an open reading frame shift. Synemin is a desmin-related myopathies (DRM)-associ[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Di Fulvio S ; Azakir B ; Sinnreich M | AFM-TELETHON | 2011Mutations in the dysferlin gene lead to limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi Myopathy and distal anterior compartment myopathy. Dysferlin is a large type II transmembrane protein composed of seven C2 domains and two dysferlin[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fayssoil A ; Nardi O ; Orlikowski D ; Pellegrini N ; Annane D | AFM-TELETHON | 2011Background :Alpha sarcoglycanopathy ( LGMD 2D) and gamma Sarcoglycanopathy (LGMD 2C) are autosomic recessive muscle diseases (myopathies), secondary to mutations of the sarcoglycan complex. This complex consists of four transmembrane proteins(al[...]Article
Le Bihan MC ; Le Bihan MC ; Bigot A ; Rogowska-Wrzesinska A ; Jensen SS ; Laine J ; Baraibar M ; Friguet B ; Dennis JL ; Jensen ON ; Coulton GR ; Mouly V | AFM-TELETHON | 2011With age, there is a gradual decline in the effectiveness of the regenerative response of skeletal muscle to damage which is accompanied by tissue remodeling such as muscle fiber atrophy, fibrosis and a general loss of muscle mass and function. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Screen M ; Lehtimaki M ; Raheem O ; Laaksonen R ; Hackman P ; Krahe R ; Udd B | AFM-TELETHON | 2011Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)n repeat expansion in intron 1 of the ZNF9 gene. This causes a toxic RNA-mediated gain-of-function which leads to aberrant mRNA processing through sequestration of RNA[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Leroy M ; Darbellay B ; Bernheim L ; Konig S | AFM-TELETHON | 2011Our work focuses on the comprehension of the early steps of myoblast differentiation. The model we use consists of a human myoblast culture derived from satellite cells extracted from muscle biopsies. We previously showed that, to differentiate,[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Fritah A ; Steel JH ; Nichol D ; Parker N ; Williams S ; Price A ; Strauss L ; Ryder TA ; Mobberley MA ; Poutanen M ; Parker M ; White R | AFM-TELETHON | 2011The contractile function of the heart in early postnatal development and in adult is fuelled by ATP generated mainly from fatty acid oxidation in mitochondria. Because the heart has a limited capacity to store or synthesize fatty acids, cellular[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Catelain C ; Riveron S ; Mougenot N ; Jacquet A ; Papadopoulos A ; Vauchez K ; Bonne G ; Fiszman M ; Vilquin JT | AFM-TELETHON | 2011Cardiac cell replacement has emerged as a potent new therapy by regenerating irreversibly damaged heart areas in the setting of heart failure. Cell therapy approaches have been extensively developed in the indication of ischemic infarction, but [...]Publication AFM
L'AFM a réalisé cette enquête auprès des familles concernées par la dystrophie myotonique de Steinert pour répondre à la question : comment améliorer la prise en charge de cette maladie ? Les objectifs de cette étude étaient d'apporter un écla[...]Article
AFM-TELETHON 2011For most tissues, stem cell numbers decline negligibly with age, but there is a nevertheless an age-dependent decline in stem cell functionality. Many molecular, biochemical, and functional features of stem cells have been characterized across a[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sicot G ; Bichara M ; Huguet A ; Nicole A ; Gerard C ; Sergeant N ; Gourdon G ; Gomes Pereira M | AFM-TELETHON | 2011Myotonic dystrophy type 1 (DM1), the most common form of adult muscular dystrophy, is an autosomic dominant multisystemic disorder caused by the expansion of a non-coding CTG trinucleotide repeat in the DMPK gene. Although traditionally regarded[...]Article
Nicole S, Auteur ; Franques J ; Bauche S ; Bernard V ; Stum M ; Davoine CS ; Bureau C ; Fardeau M ; Romero NB ; Fontaine B ; Tranchant C ; Koenig J ; Hantaï D ; Eymard B ; Fournier E | AFM-TELETHON | 2011Schwartz-Jampel syndrome (SJS) is a recessive disorder characterized by muscle stiffness with spontaneous activity at the rest EMG. SJS is due to mutations of perlecan, a proteoglycan of basement membranes. The characteristics of spontaneous act[...]Article
Purpose: Inclusion Body Myositis (IBM) is the most common acquired myopathy in patients above the age of 50 years. This disabling disease is an inflammatory myopathy characterized by CD8+ cytotoxic infiltrates and amyloid deposits. IBM remains r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Gradolatto A ; Nazzal D ; Truffault F ; Berrih-Aknin S | AFM-TELETHON | 2011Myasthenia gravis (MG) is a rare auto-immune disease that is often associated with thymic hyperplasia and inflammation. Inside the immune system, T cells have been shown to be impaired in MG patients. Indeed, even if numbers of T regulatory (Tre[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Wary C ; Carlier RY ; Canal A ; Duteil S ; Hogrel JY ; Laforet P ; Carlier PG ; Pénisson-Besnier I | AFM-TELETHON | 2011In late-onset acid-maltase deficiency (LO-GSDII), evolution is generally slow and complicates evaluation. We report the case of a 43yr-old woman, in whom NMRI evidenced localised but dramatic degradation of quadriceps muscles over a 3yr period, [...]Article
RNA therapeutic approaches have proven to be very successful in cell culture and in animal experiments. Some oligonucleotides based clinical trials are currently already in progress. To be efficient, the oligonucleotides must be composed of non-[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Lacour A ; Amati-Bonneau P ; Reynier P ; Defoort-Dhellemmes S ; Vignal C ; Fribourg-Desi M ; Romero NB ; Maurage CA ; Jardel C ; Vermersch P ; Eymard B ; Stojkovic T | AFM-TELETHON | 2011Background:Extra-ocular neurological signs are frequent in autosomal dominant optic atrophy (ADOA) due to OPA1 mutations. However, time course and severity of this extra-ocular involvement can vary. Observations:We report three families with ADO[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Pakula A ; Mahler A ; Schmidt S ; Luft F ; Spuler S ; Boschmann M | AFM-TELETHON | 2011Facioscapulohumeral Muscular Dystrophy, Glucose Metabolism and Insulin Resistance A. Pakula, A. Mer, S. Schmidt, F.C. Luft, S. Spuler, M. Boschmann Franz-Volhard- Centrum fr Klinische Forschung, Charitiversitmedizin Berlin, Deutschland Hypothesi[...]Article
Mouly V ; Larghero J ; Toy-Miou M ; Eymard B ; Pascal L ; Chapon F ; Butler Browne G ; Lacau Saint Guily J | AFM-TELETHON | 2011Degenerative dystrophy of the pharyngeal muscles in OPMD causes fibrosis with swallowing disorders and a decreased relaxation of the cricopharyngeal muscle (CPM) (muscle of the upper esophageal sphincter, UES). The myotomy of the UES improves on[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Revillod L ; Christov C ; Gourdon G ; Furling D ; Puymirat J ; Gherardi RK ; Bassez G | AFM-TELETHON | 2011The myotonic dystrophies (DM) include DM1 (or Steinerts disease), caused by expansion of a CTG triplet repeat in the 3' UTR of the DM protein kinase (DMPK) gene, and DM2 (myotonic dystrophy type 2), caused by expansion of a CCTG tetranucleotide [...]Article
Le Guiner C ; Montus M ; Garcia L ; Y.Fromes ; Hogrel JY ; Carlier P ; Cherel Y ; Moullier P | AFM-TELETHON | 2011In Duchenne Muscular Dystrophy (DMD) the selective removal by exon skipping of exons flanking an out-of frame mutation in the dystrophin messenger can result in in-frame mRNA transcripts that are translated into shorter but functionally active d[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; L'Honoré A ; Montarras D ; Melki J ; Drouin J ; Buckingham M | AFM-TELETHON | 2011Pitx2 and Pitx3 genes are members of the Pitx gene family that encodes homeodomain transcription factors. Originally identified as important upstream regulators in the pituitary gland, Pitxs play a role in the formation of a number of tissues an[...]Article
AFM-TELETHON 2011Spinal muscular atrophy (SMA) is caused by Survival Motor Neuron (SMN) protein deficiency. The vast majority of SMA patients have deletions of the SMN1 gene, leaving SMN2 as the only source of SMN protein. However, due to a single nucleotide cha[...]Article
In vivo gene electrotransfer (ET) is often used in preclinical gene therapy studies. Many studies attempted to optimize ET protocols to increase efficiency while reducing muscle damage. Most of them reported histological evidences of muscle dege[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sanchez G ; Tadesse H ; Trinkle Mulcahy L ; Biondi O ; Charbonnier F ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is amongst the leading genetic causes of infant deaths and is characterized by specific degeneration and loss of spinal cord motoneurons. It is caused by the disruption of the "survival of motor neurons" gene (Smn1)[...]Article
Azpitarte M ; Aiastui A ; Goicoechea M ; Manterola L ; Pastoriza N ; Garcia Bragado F ; Lopez de Munain Arregui A ; Saenz A | AFM-TELETHON | 2011Context: Limb girdle muscular dystrophy (LGMD) type 2A is caused by mutation in the gene encoding for calpain-3 resulting into total or partial loss of protein. Diagnosis of LGMD2A, the most prevalent form of LGMD, is obtained by analyzing calpa[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Sacconi S ; Camano P ; de Greef J ; Lemmers R ; Salviati L ; Boileau P ; Lopez de Munain Arregui A ; van der Maarel S ; Desnuelle C | AFM-TELETHON | 2011The aim of this study was to identify the genetic and epigenetic defects in patients presenting with a FSHD clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis (LGE) and Southern blot analysis. We[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Zhou J ; Veillet J ; Tiziano FD ; Servidei S ; Bertini E ; Brahe C ; Durand ME ; Topaloglu H ; Melki J | AFM-TELETHON | 2011Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by degeneration of lower motor neurons leading to progressive muscle paralysis. The most frequent form is linked to mutations of the SMN1 gene on C[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Voldoire E ; Godet E ; Chabault M ; Leroux S ; Jlali M ; Graulet B ; Pitel F ; Le Bihan Duval E ; Berri C ; Duclos M | AFM-TELETHON | 2011The enzyme beta, beta-carotene-15, 15'-monooxygenase, product of the BCMO-1 gene, is involved in the conversion of carotenoids into retinoids. We recently characterized a polymorphism in the putative promoter of the BCMO-1 gene, associated with [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Jean-Louis F ; Dubois L ; Boukhatmi H ; deTaffin M ; Crozatier M ; Vincent A | AFM-TELETHON | 2011The diversity of human muscles is necessary to achieve proper coordinated movements. Each muscle displays a distinctive set of properties: size, shape, orientation, attachment sites to the skeleton and specific innervation. The fundamental quest[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Michon CC ; Nadaj-Pakleza A ; Boneva N ; Payan C ; Gargiulo M ; Herson A ; Guichar-Gomez E ; Berthoux M ; Sarazin M ; Eymard B ; Labrune P ; Laforet P | AFM-TELETHON | 2011BACKGROUND. Glycogen storage disease type III (GSD III) is a rare autosomal recessive disorder due to glycogen debranching enzyme (GDE) deficiency. It results in a multisystemic affection including hepatic and myopathic symptoms. While frequent [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Argov Z | AFM-TELETHON | 2011The clinical and genetic features of hereditary inclusion body myopathy (HIBM)/ distal myopathy with rimmed vacuoles (DMRV), a disorder due to mutations in the Nacetylglucosamine epimerase/N-acetylmannosamine kinase (GNE) gene will be reviewed. [...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Strosova M ; Ruegg U ; Dorchies OM | AFM-TELETHON | 2011Green tea polyphenols (GTP) and their major compound epigallocatechin gallate (EGCG) are known for a wide range of health-promoting properties, such as antioxidant, anticancer, anti-inflammatory, antibacterial, antiviral, antifibrotic, hypolipid[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hubers L ; Valderrama-Carvajal H ; Laframboise J ; Sanchez G ; Coté J | AFM-TELETHON | 2011Spinal muscular atrophy is an autosomal recessive neuromuscular disease caused by disruption of the survival of motor neuron gene, SMN, which promotes cytoplasmic assembly of the splicing core machinery. It remains unclear how a deficiency in SM[...]Article
AFM-TELETHON 2011Much of what is known about the molecular pathways that lead to human cardiovascular disorders has come from studying animal models, particularly genetically modified mice. In some cases it is possible to translate genetic discoveries from human[...]Article
Ben Ammar A ; Soltanzadeh P ; Bauche S ; Richard P ; Goillot E ; Herbst R ; Gaudon K ; Huze C ; Lecuyer HA ; Schaeffer L ; Yamanashi Y ; Higuchi O ; Taly A ; Koenig J ; Leroy JP ; Hentati F ; Najmabadi H ; Kahrizi K ; Ilkhani M ; Fardeau M ; Eymard B ; Hantaï D | AFM-TELETHON | 2011Poster : Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuro[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Laustriat D ; Gide J ; Barrault L ; Furling D ; Peschanski M ; Baghdoyan S | AFM-TELETHON | 2011Myotonic Dystrophy type 1 (DM1), the most common form of inherited muscular dystrophy in adults, is due to an unstable expansion of CTG triplet repeats in the 3'-untranslated region of the DMPK gene. This generates alternate splicing defects in [...]Article
Mice that over-express growth factor-1 IGF-1 in skeletal myofibres develop muscle hypertrophy, however the mechanism of such hypertrophy in vivo has not been established. This study characterized novel strains of normal and dystrophic (mdx) mice[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Chaouch S ; Mamchaoui K ; Trollet C ; Bigot A ; Negroni E ; Wolff A ; Kandalla P ; Marie S ; Di Santo J ; Muntoni F ; Lacau Saint Guily J ; Spuler S ; Philippi S ; Blumen S ; Furling D ; Voit T ; Wright W ; Aamiri A ; Butler-Browne GS ; Mouly V ; Kandalla PK ; Kim J ; Blumen SC ; Wright WE | AFM-TELETHON | 2011We recently generated immortalized human myoblast cell lines from control donors, by transduction of these cells with both telomerase (hTERT) and cyclin-dependent kinase 4 (CDK-4) expressing vectors. These cells maintain their potential to diffe[...]Article
Benard R ; Benard R ; Dupas B ; Sene A ; Gaudric A ; Sennlaub F ; Sahel JA ; Tadayoni R | AFM-TELETHON | 2011Purpose : To investigate whether Dystrophin protein 71 (Dp71), the smallest product of Duchenne Muscular Dystrophy (DMD) gene, and key component of the membrane associated cytoskeleton has an implication in angiogenesis. Methods: Flat mounted r[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Nicot AS ; Pilot-Storck F ; Sandri M ; Schaeffer L ; Goillot E | AFM-TELETHON | 2011Autophagy is essential for cell homeostasis through degradation of proteins and organelles by lysosomes, thus maintaining a balance between synthesis, degradation and recycling. Excessive protein clearance in disused muscles, cancer or some myop[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Schakman O ; Zanou N ; Shapovalov G ; Gallo C ; Dietrich A ; Lebacq J ; Ruegg U ; Birnbaumer L ; Gailly P | AFM-TELETHON | 2011Skeletal muscle contraction is reputed not to depend on extracellular Ca2+. Indeed, stricto sensu, excitation-contraction coupling does not necessitate entry of Ca2+. However, we previously observed that, during sustained activity (repeated cont[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Hidalgo M ; Launay T ; Buisson N ; Marchand D ; Bigard X ; Beaudry M ; Darribère T | AFM-TELETHON | 2011Oxygen availability plays a central role during early development and normal muscular activity. Hypoxia, a decrease in oxygen availability, seems to induce modifications in the main calcineurin, PI3K and p38-MAPK pathways. To examine the hypoxia[...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Iglesias C ; Delestree N ; Manuel M ; Zytnicki D | AFM-TELETHON | 2011In Amyotrophic Lateral Sclerosis (ALS; SOD1 G93A model), only the fast contracting motor units are affected [1,2]. The mechanisms leading to this selective vulnerability are still unknown. In particular, we do not know whether the motoneurons' ([...]Article
4th International Congress of Myology, 4ème colloque international de Myologie (9-13 mai 2011; Lille (France)) ; Desaphy JF ; Costanza T ; Gramegna G ; Conte Camerino D | AFM-TELETHON | 2011The therapy of myotonia is based on the use of sodium channel blockers able to inhibit the high-frequency discharges of action potentials in skeletal muscle. Mexiletine (Mex) is widely considered as the first choice drug, but a number of myotoni[...]Article
Centronuclear myopathies are rare muscle diseases characterized by muscle weakness associated to the abnormal positioning of nuclei in muscle fibers. Mutations in myotubularin (MTM1) have been identified in the most severe form of CNM: the X-lin[...]Article
AFM-TELETHON 2011Our group is focused on two closely interconnected research lines, aiming to increase the understanding of the molecular mechanisms controlling skeletal muscle regeneration, as well as fibrosis development in dystrophinopathies. Specifically, ou[...]
Association Française contre les Myopathies (AFM)
Association des Myopathes de France (AMF) créée en 1958
Association Française pour la myopathie (AFM)