SE-ATLAS

Myopathie distale de l'adulte due à des mutations de VCP Myosclérose Myosite parasitaire Myosite focale Myopathie inflammatoire idiopathique juvénile Sclérose latérale primitive Myosite bactérienne Camptocormie idiopathique Myopathie précoce avec cardiomyopathie létale Myosite fongique Myopathie avec surcharge en myosine Rhabdomyosarcome Neuropathie motrice distale héréditaire de l'adulte jeune Syndrome de Richieri-Costa-da Silva Dystrophie musculaire congénitale due à une dystroglycanopathie Syndrome de dystrophie musculaire congénitale-cataracte infantile-hypogonadisme Myosite de chevauchement juvénile Amyotrophie spinale proximale autosomique dominante de l'enfance Syndrome de dystrophie musculaire-substance blanche cérébrale spongieuse Dermatomyosite juvénile Myopathie tardive associée à l'alpha-B cristalline Amyotrophie spinale associée à une malformation du système nerveux central Sclérose latérale amyotrophique type 4 Myopathie congénitale bénigne des Samaritains Syndrome du motoneurone inférieur, forme tardive de l'adulte Myopathie congénitale avec disproportion des types de fibres musculaires Myopathie métabolique par défaut de transport du lactate Amyotrophie spinale proximale autosomique dominante de l'enfance associée à BICD2 Maladie du motoneurone type Madras Amyotrophie spinale proximale autosomique dominante de l'adulte Myopathie avec surcharge en desmine et inclusions de corps de Mallory Amyotrophie spinale proximale autosomique dominante de l'enfance associée à DYNC1H1 Myopathie vacuolaire avec agrégation de protéines du réticulum sarcoplasmique Dystrophie musculaire congénitale mégaconiale Syndrome de Schwartz-Jampel Neuropathie motrice distale héréditaire autosomique récessive Myopathie létale congénitale type Compton-North Déficit en transporteur de la riboflavine Neuropathie motrice distale héréditaire autosomique dominante Myopathie à corps sphéroïdes Canalopathie musculaire Sclérose latérale amyotrophique Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine Syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie Myopathie à empreintes digitales Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains Amyotrophie spinale bénigne congénitale autosomique dominante Dystrophie musculaire d'Emery-Dreifuss Syndrome d'O'Sullivan-McLeod Syndrome d'Isaacs Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal Dystrophie musculaire de Duchenne et Becker Dystrophie musculaire des ceintures Myopathie à corps réducteurs Rippling muscle disease Myopathie amérindienne Myopathie à corps zébrés Myopathie distale précoce associée à KLHL9 Thyrotoxic periodic paralysis Corpus callosum agenesis-neuronopathy syndrome Facioscapulohumeral dystrophy Proximal spinal muscular atrophy type 1 Morvan syndrome Congenital muscular dystrophy Muscular dystrophy Myxofibrosarcoma Oculopharyngeal muscular dystrophy Congenital myopathy Skeletal muscle disease Distal hereditary motor neuropathy type 2 Rigid spine syndrome Hypokalemic periodic paralysis Muscle filaminopathy Infantile myofibromatosis Steinert myotonic dystrophy Hyperkalemic periodic paralysis Genetic skeletal muscle disease Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Tubular aggregate myopathy Paramyotonia congenita of Von Eulenburg Distal myopathy with anterior tibial onset Juvenile amyotrophic lateral sclerosis Juvenile polymyositis Ullrich congenital muscular dystrophy Acquired skeletal muscle disease Finnish upper limb-onset distal myopathy Congenital muscular dystrophy type 1B Progressive muscular dystrophy Idiopathic inflammatory myopathy Distal hereditary motor neuropathy type 5 Metabolic myopathy Oculopharyngodistal myopathy Myotonic dystrophy Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement Hereditary myopathy with lactic acidosis due to ISCU deficiency Distal spinal muscular atrophy type 3 Brody myopathy Autosomal recessive distal myopathy Hereditary continuous muscle fiber activity Neuromuscular junction disease Tel Hashomer camptodactyly syndrome Autosomal dominant distal myopathy Acquired neuromuscular junction disease Distal anoctaminopathy Lambert-Eaton myasthenic syndrome Distal hereditary motor neuropathy, Jerash type Congenital myopathy with excess of thin filaments Genetic neuromuscular junction disease Non-dystrophic myopathy Distal nebulin myopathy Alpha-crystallinopathy Desminopathy Cap myopathy Late-onset distal myopathy, Markesbery-Griggs type Motor neuron disease X-linked distal spinal muscular atrophy type 3 Non-dystrophic myopathy with collagen 6 anomaly Distal myotilinopathy Congenital muscular dystrophy with hyperlaxity Eosinophilic fasciitis Genetic motor neuron disease Miyoshi myopathy Congenital myopathy with cores Congenital muscular dystrophy due to LMNA mutation Postsynaptic congenital myasthenic syndromes Presynaptic congenital myasthenic syndromes Inflammatory myopathy with abundant macrophages Cylindrical spirals myopathy Myotonia permanens Acquired motor neuron disease Inclusion myopathy Synaptic congenital myasthenic syndromes Myopathy with hexagonally cross-linked tubular arrays Acetazolamide-responsive myotonia Spinal muscular atrophy with respiratory distress type 1 Hereditary inclusion body myopathy type 4 King-Denborough syndrome Autosomal dominant proximal spinal muscular atrophy Neurogenic scapuloperoneal syndrome, Kaeser type Idiopathic eosinophilic myositis Myasthenia gravis Autosomal recessive myogenic arthrogryposis multiplex congenita Congenital myasthenic syndrome Intellectual disability-developmental delay-contractures syndrome Trichinellosis Genetic periodic paralysis Macrophagic myofasciitis Myofibrillar myopathy Juvenile myasthenia gravis Poliomyelitis Centronuclear myopathy Polymyositis Neuromuscular disease Muscular glycogenosis Juvenile primary lateral sclerosis Adult-onset myasthenia gravis Central core disease Alveolar rhabdomyosarcoma Distal myopathy Infantile-onset X-linked spinal muscular atrophy Vocal cord and pharyngeal distal myopathy Embryonal rhabdomyosarcoma GNE myopathy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Fetal akinesia-cerebral and retinal hemorrhage syndrome Distal myopathy, Welander type Transient neonatal myasthenia gravis Congenital myopathy, Paradas type X-linked myopathy with postural muscle atrophy Proximal myotonic myopathy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Nemaline myopathy Distal hereditary motor neuropathy type 7 Tibial muscular dystrophy Arthrogryposis due to muscular dystrophy Bethlem muscular dystrophy Inclusion body myositis Myotonic syndrome X-linked myopathy with excessive autophagy Potassium-aggravated myotonia Hereditary myopathy with early respiratory failure Periodic paralysis Infantile-onset ascending hereditary spastic paralysis Intellectual disability-myopathy-short stature-endocrine defect syndrome Autosomal dominant spastic paraplegia type 17 Bulbospinal muscular atrophy of childhood Thomsen and Becker disease Pontocerebellar hypoplasia type 2 Bulbospinal muscular atrophy Proximal spinal muscular atrophy Congenital myotonia Pontocerebellar hypoplasia type 1 Kennedy disease Overlap myositis Bulbospinal muscular atrophy of adult Muscular dystrophy, Selcen type Immune-mediated necrotizing myopathy Congenital fibrosis of extraocular muscles Laing early-onset distal myopathy Rippling muscle disease with myasthenia gravis Postpoliomyelitis syndrome Generalized bulbospinal muscular atrophy Monomelic amyotrophy Congenital myasthenic syndromes with glycosylation defect Muscular tumor Antisynthetase syndrome Infectious, fungal or parasitic myopathy Cyprus facial-neuromusculoskeletal syndrome Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 2 Dermatomyositis Viral myositis Proximal spinal muscular atrophy type 4 Muscular lipidosis Andersen-Tawil syndrome Autosomal recessive lower motor neuron disease with childhood onset Distal hereditary motor neuropathy type 1 Myotonia fluctuans Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome