SE-ATLAS

Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch KIF5A-Genmutation Neuropathie, hereditäre motorisch-sensorische, Typ 6 Gliedergürtelmuskeldystrophie, autosomal-rezessive, durch Desmin-Mangel Adenosinmonophosphat-Desaminase-Mangel Progressive Muskelatrophie Neuropathie, distale hereditäre motorische, X-chromosomale Myoklonus-Dystonie-Syndrom Kyphose-laterale Zungenatrophie-myofibrilläre Myopathie-Syndrom Arthrogrypose, distale, Typ 1 Myopathie, idiopathische inflammatorische, juvenile Form Alpha-Sarkoglykan assoziierte Gliedergürtelmuskeldystrophie R3 Anti-Synthetase-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch MME-Genmutation Muskeldystrophie, megakoniale kongenitale Proximale Myopathie mit fokaler mitochondrialer Depletion GMPPB-assoziierte Gliedergürtelmuskeldystrophie R19 Brody-Myopathie Lipidose, muskuläre Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel Beta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R4 Myotones Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2K Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Neuropathy, motorische, distale, hereditäre, autosomal-dominante Myopathie, idiopathische inflammatorische Kongenitale Myopathie mit Myasthenie-ähnlichem Beginn Neuropathy, motorische, distale, hereditäre, autosomal-rezessive Myopathie, metabolische Ionenkanalkrankheit, muskuläre Progressive externe Ophthalmoplegie-Myopathie-Kachexie-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Y ISPD-assoziierte Gliedergürtelmuskeldystrophie R20 Distale Myopathie mit Beginn am vorderen Schienbein Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2 Syndrom der kongenitalen generalisierten hyperkontraktilen Muskelsteifheit Neuropathie, distale hereditäre motorische, Typ 1 Myopathie, letale, kongenitale, Typ Compton-North Hyperkontraktile Muskelsteifheit-Syndrom Paralyse, periodische thyreotoxische Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1C Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A Kongenitale Muskeldystrophie durch Dystroglykanopathie Kongenitale Muskeldystrophie mit zerebellärer Beteiligung Dysferlin-assoziierte Gliedergürtelmuskeldystrophie R2 Muskeldystrophie, okulopharyngeale Muskeldystrophie, kongenitale, Typ Fukuyama Neuropathie, distale hereditäre motorische, Typ 5 Spinale Muskelatrophie, distale, Typ 3 Kongenitale Muskeldystrophie mit Intelligenzminderung Myotone Dystrophie Steinert Kongenitale Muskeldystrophie ohne Intelligenzminderung Enzephalomyopathie, mitochondriale neurogastrointestinale Muskel-Auge-Gehirn-Krankheit mit bilateraler multizystischer Leukodystrophie DPM3-CDG Kongenitale Katarakt-progressive Muskelhypotonie-Hörverlust-Entwicklungsverzögerung-Syndrom Neuropathie, distale motorische, hereditäre, Typ 7 Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2Y Proximale Myopathie mit extrapyramidalen Zeichen Glykogenose Typ 5 Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, durch DGAT2-Genmutation Polymyositis, juvenile Miyoshi-Myopathie Idiopathisches Dropped-Head-Syndrom Myotonia permanens Myotonia fluctuans Kongenitale Muskeldystrophie-Atemversagen-Hautanomalien-Gelenkinstabilität-Syndrom Myotonia congenita, Azetazolamidempfindliche Plectin-assoziierte Gliedergürtelmuskeldystrophie R17 Pränatale spinale Muskelatrophie mit kongenitalen Knochenbrüchen King-Denborough-Syndrom Kongenitale muskuläre alpha-Dystroglykanopathie mit Gehirn- und Augenanomalien Nemalin-Myopathie, intermediäre POGLUT1-assoziierte Gliedergürtelmuskeldystrophie R21 Nemalin-Myopathie, milde Nemalin-Myopathie, typische Ionenkanalkrankheit, neuromuskuläre, genetisch bedingte Nemalin-Myopathie mit Beginn im Erwachsenenalter Periodische Paralyse mit später einsetzender distaler motorischer Neuropathie Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Chloridkanaldefekt Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Natriumkanaldefekt Proximale spinale Muskelatrophie mit Beginn im Erwachsenenalter, autosomal-dominante Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kalziumkanaldefekt Periphere Neuropathie-Myopathie-Heiserkeit-Hörverlust-Syndrom, MYH14-assoziiertes Filaminopathie, muskuläre Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Ryanodin-Rezeptordefekt Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2V Kongenitale Muskeldystrophie mit Intelligenzminderung und schwerer Epilepsie Kearns-Sayre-Syndrom Kennedy-Krankheit Dermatomyositis, juvenile Neuropathie, distale hereditäre motorische Progressive skapulo-humerale peroneale distale Myopathie Symptomatische Form der X-chromosomalen zentronukleären Myopathie bei weiblichen Anlageträgerinnen Morvan-Syndrom Spinale Muskelatrophie-progressive Myoklonusepilepsie-Syndrom Myopathie mit tubulären Aggregaten Mitochondriale Myopathie-Laktatazidose-Schwerhörigkeit-Syndrom MELAS MERRF Isolierter Atmungskettendefekt im Komplex I Vakuoläre Myopathie mit Proteinaggregaten des sarkoplasmatischen Retikulums Glykogenose durch muskulären beta-Enolase-Mangel Myopathie - Diabetes mellitus Mitochondriale Myopathie und sideroblastische Anämie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2, mit Riesen-Axonen Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Q Laminin-Alpha-2-assoziierte Gliedergürtelmuskeldystrophie Myopathie, zentronukleäre Myopathie, zentronukleäre, X-chromosomale Central-Core-Myopathie Multiminicore-Myopathie Myopathie, distale Myopathie, kongenitale, mit Exzess dünner Filamente Amish nemaline myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2B Late-onset distal myopathy, Markesbery-Griggs type Autosomal dominant Charcot-Marie-Tooth disease type 2D Inclusion body myositis Autosomal dominant Charcot-Marie-Tooth disease type 2F Early-onset myopathy with fatal cardiomyopathy Myosclerosis Native American myopathy Congenital myopathy, Paradas type Hypokalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Limb-girdle muscular dystrophy due to POMK deficiency Amyotrophic lateral sclerosis type 4 Glycogen storage disease due to muscle phosphorylase kinase deficiency Muscular dystrophy, Selcen type Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1A Fukutin-related limb-girdle muscular dystrophy R13 Anoctamin-5-related limb-girdle muscular dystrophy R12 Distal myopathy with early respiratory muscle involvement Autosomal recessive lower motor neuron disease with childhood onset Hereditary inclusion body myopathy type 4 Neuromuscular disease Laing early-onset distal myopathy Distal myopathy with posterior leg and anterior hand involvement POMT1-related limb-girdle muscular dystrophy R11 Autosomal dominant distal myopathy Non-dystrophic myopathy Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome TRIM32-related limb-girdle muscular dystrophy R8 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Myopathy with hexagonally cross-linked tubular arrays Immune-mediated acquired neuromuscular junction disease Autosomal dominant Charcot-Marie-Tooth disease type 2W Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Reducing body myopathy Rippling muscle disease Zebra body myopathy Rigid spine syndrome Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Fatal infantile hypertonic myofibrillar myopathy Juvenile primary lateral sclerosis Autosomal recessive distal myopathy Congenital muscular dystrophy Congenital fiber-type disproportion myopathy Desmin-related myopathy with Mallory body-like inclusions Motor neuron disease Epidermolysis bullosa simplex with muscular dystrophy Emery-Dreifuss muscular dystrophy Distal hereditary motor neuropathy type 2 Congenital muscular dystrophy due to LMNA mutation Distal hereditary motor neuropathy, Jerash type Hereditary myopathy with early respiratory failure X-linked distal spinal muscular atrophy type 3 Idiopathic camptocormia TNP03-related limb-girdle muscular dystrophy D2 HNRNPDL-related limb-girdle muscular dystrophy D3 Myotilinopathy Carey-Fineman-Ziter syndrome Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Corpus callosum agenesis-neuronopathy syndrome Congenital muscular dystrophy type 1B Autosomal dominant Charcot-Marie-Tooth disease type 2O Muscle-eye-brain disease Mitochondrial myopathy Myasthenia gravis Becker muscular dystrophy Congenital myasthenic syndrome Oculopharyngodistal myopathy Vocal cord and pharyngeal distal myopathy GNE myopathy Distal myopathy, Welander type Desminopathy Neutral lipid storage myopathy Distal myotilinopathy Proximal myotonic myopathy Nemaline myopathy Alpha-crystallinopathy Autosomal dominant Charcot-Marie-Tooth disease type 2E Autosomal dominant Charcot-Marie-Tooth disease type 2G Potassium-aggravated myotonia Thomsen and Becker disease Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2L Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Autosomal recessive limb-girdle muscular dystrophy POMGNT2-related limb-girdle muscular dystrophy R24 X-linked myotubular myopathy-abnormal genitalia syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Cramp-fasciculation syndrome Andersen-Tawil syndrome Polyglucosan body myopathy type 2 Congenital myopathy with internal nuclei and atypical cores Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Telethonin-related limb-girdle muscular dystrophy R7 Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth disease type 1F POMT2-related limb-girdle muscular dystrophy R14 POMGNT1-related limb-girdle muscular dystrophy R15 Genetic periodic paralysis Hereditary continuous muscle fiber activity X-linked myopathy with postural muscle atrophy Congenital fibrosis of extraocular muscles Congenital limbs-face contractures-hypotonia-developmental delay syndrome Glycogen storage disease due to glycogen branching enzyme deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2U Autoimmune neurological channelopathy Genetic recurrent myoglobinuria Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Juvenile amyotrophic lateral sclerosis Neutral lipid storage disease with ichthyosis Metabolic myopathy due to lactate transporter defect DNAJB6-related limb-girdle muscular dystrophy D1 Finnish upper limb-onset distal myopathy Immune-mediated necrotizing myopathy Distal anoctaminopathy Primary lateral sclerosis Cylindrical spirals myopathy Bulbospinal muscular atrophy of adult Congenital myopathy with cores Ullrich congenital muscular dystrophy Muscular glycogenosis Young adult-onset distal hereditary motor neuropathy Infantile-onset X-linked spinal muscular atrophy Congenital myotonia Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Isolated succinate-CoQ reductase deficiency Infectious, fungal or parasitic myopathy Multiple acyl-CoA dehydrogenase deficiency Muscular dystrophy Inclusion body myopathy with Paget disease of bone and frontotemporal dementia DNA2-related mitochondrial DNA deletion syndrome Autosomal recessive centronuclear myopathy Autosomal dominant limb-girdle muscular dystrophy type 1B Adenylosuccinate synthetase-like 1-related distal myopathy Severe congenital nemaline myopathy Hyperkalemic periodic paralysis Autosomal dominant Charcot-Marie-Tooth disease type 2N Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Barth syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Scapuloperoneal spinal muscular atrophy Childhood-onset autosomal recessive myopathy with external ophthalmoplegia Late-onset scapuloperoneal muscular dystrophy with hyaline bodies Neurogenic scapuloperoneal syndrome, Kaeser type Systemic primary carnitine deficiency Autosomal dominant limb-girdle muscular dystrophy type 1H Neutral lipid storage disease Spinal muscular atrophy associated with central nervous system anomaly Short chain acyl-CoA dehydrogenase deficiency TRAPPC11-related limb-girdle muscular dystrophy R18 Autosomal dominant congenital benign spinal muscular atrophy Spinal atrophy-ophthalmoplegia-pyramidal syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2DD Genetic motor neuron disease Distal myopathy, Tateyama type Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Hereditary motor and sensory neuropathy type 5 Laminin subunit alpha 2-related congenital muscular dystrophy Facioscapulohumeral dystrophy MYH7-related late-onset scapuloperoneal muscular dystrophy Autosomal dominant mitochondrial myopathy with exercise intolerance X-linked myopathy with excessive autophagy Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Neurological muscular channelopathy due to a genetic potassium channel defect Myosin storage myopathy Autosomal dominant myoglobinuria Duchenne muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2C Tibial muscular dystrophy Autosomal dominant Charcot-Marie-Tooth disease type 2J Polyglucosan body myopathy type 1 Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial trifunctional protein deficiency Distal nebulin myopathy Glycogen storage disease due to LAMP-2 deficiency Acquired skeletal muscle disease Inclusion myopathy Autosomal dominant Charcot-Marie-Tooth disease type 2M Autosomal recessive myogenic arthrogryposis multiplex congenita Spheroid body myopathy Cap myopathy Bulbospinal muscular atrophy Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Generalized bulbospinal muscular atrophy LIMS2-related myopathy Idiopathic eosinophilic myositis BVES-related limb-girdle muscular dystrophy Fingerprint body myopathy Lower motor neuron syndrome with late-adult onset Carnitine palmitoyltransferase II deficiency Periodic paralysis with transient compartment-like syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth disease type 1B Polymyositis Charcot-Marie-Tooth disease type 1D Rippling muscle disease with myasthenia gravis KLHL9-related early-onset distal myopathy Overlap myositis Adult-onset distal myopathy due to VCP mutation Refsum disease Schwartz-Jampel syndrome Glycogen storage disease due to phosphoglycerate mutase deficiency Guillain-Barré syndrome Charcot-Marie-Tooth disease type 1 Dermatomyositis Duchenne and Becker muscular dystrophy Spinal muscular atrophy with respiratory distress type 2 Proximal spinal muscular atrophy Juvenile overlap myositis X-linked scapuloperoneal muscular dystrophy Acquired motor neuron disease Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome Limb-girdle muscular dystrophy Calpain-3-related limb-girdle muscular dystrophy R1 Charcot-Marie-Tooth disease type 2P Congenital muscular dystrophy with hyperlaxity Charcot-Marie-Tooth disease type 1E Spinal muscular atrophy with respiratory distress type 1 O'Sullivan-McLeod syndrome Calpain-3-related limb-girdle muscular dystrophy D4 Alpha-B crystallin-related late-onset myopathy Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Walker-Warburg syndrome Periodic paralysis Isaacs syndrome Autosomal dominant centronuclear myopathy Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Myofibrillar myopathy Bethlem muscular dystrophy Cyprus facial-neuromusculoskeletal syndrome Titin-related limb-girdle muscular dystrophy R10 Autosomal dominant limb-girdle muscular dystrophy FKRP-related limb-girdle muscular dystrophy R9 Congenital muscular dystrophy with integrin alpha-7 deficiency Focal myositis Lambert-Eaton myasthenic syndrome Progressive muscular dystrophy Congenital myopathy with reduced type 2 muscle fibers Muscular dystrophy-white matter spongiosis syndrome Benign Samaritan congenital myopathy Amyotrophic lateral sclerosis Myotonic dystrophy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome