SE-ATLAS

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Hereditary motor and sensory neuropathy type 6 Autosomal recessive limb-girdle muscular dystrophy type 2R Adenosine monophosphate deaminase deficiency Progressive muscular atrophy X-linked distal hereditary motor neuropathy Myoclonus-dystonia syndrome Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Distal arthrogryposis type 1 Juvenile idiopathic inflammatory myopathy Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Antisynthetase syndrome MME-related autosomal dominant Charcot Marie Tooth disease type 2 Megaconial congenital muscular dystrophy Proximal myopathy with focal depletion of mitochondria GMPPB-related limb-girdle muscular dystrophy R19 Brody myopathy Muscular lipidosis Hereditary myopathy with lactic acidosis due to ISCU deficiency Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 Myotonic syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2K Very long chain acyl-CoA dehydrogenase deficiency Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy Congenital myopathy with myasthenic-like onset Autosomal recessive distal hereditary motor neuropathy Metabolic myopathy Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Y ISPD-related limb-girdle muscular dystrophy R20 Distal myopathy with anterior tibial onset Autosomal dominant Charcot-Marie-Tooth disease type 2 Congenital generalized hypercontractile muscle stiffness syndrome Distal hereditary motor neuropathy type 1 Congenital lethal myopathy, Compton-North type Hypercontractile muscle stiffness syndrome Thyrotoxic periodic paralysis Autosomal dominant limb-girdle muscular dystrophy type 1C Autosomal dominant limb-girdle muscular dystrophy type 1A Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy with cerebellar involvement Dysferlin-related limb-girdle muscular dystrophy R2 Oculopharyngeal muscular dystrophy Congenital muscular dystrophy, Fukuyama type Distal hereditary motor neuropathy type 5 Distal spinal muscular atrophy type 3 Congenital muscular dystrophy with intellectual disability Steinert myotonic dystrophy Congenital muscular dystrophy without intellectual disability Mitochondrial neurogastrointestinal encephalomyopathy Muscle-eye-brain disease with bilateral multicystic leucodystrophy DPM3-CDG Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Distal hereditary motor neuropathy type 7 TOR1AIP1-related limb-girdle muscular dystrophy Proximal myopathy with extrapyramidal signs Glycogen storage disease due to muscle glycogen phosphorylase deficiency Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Juvenile polymyositis Miyoshi myopathy Idiopathic dropped head syndrome Myotonia permanens Myotonia fluctuans Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome Acetazolamide-responsive myotonia Plectin-related limb-girdle muscular dystrophy R17 Prenatal-onset spinal muscular atrophy with congenital bone fractures King-Denborough syndrome Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Intermediate nemaline myopathy POGLUT1-related limb-girdle muscular dystrophy R21 Childhood-onset nemaline myopathy Typical nemaline myopathy Genetic neurological muscular channelopathy Adult-onset nemaline myopathy Periodic paralysis with later-onset distal motor neuropathy Neurological muscular channelopathy due to a genetic chloride channel defect Neurological muscular channelopathy due to a genetic sodium channel defect Autosomal dominant adult-onset proximal spinal muscular atrophy Neurological muscular channelopathy due to a genetic calcium channel defect Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome Muscle filaminopathy Neurological muscular channelopathy due to a genetic ryanodine receptor defect Autosomal dominant Charcot-Marie-Tooth disease type 2V Congenital muscular dystrophy with intellectual disability and severe epilepsy Kearns-Sayre syndrome Kennedy disease Juvenile dermatomyositis Distal hereditary motor neuropathy Progressive scapulohumeroperoneal distal myopathy Symptomatic form of X-linked centronuclear myopathy in female carriers Morvan syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Tubular aggregate myopathy Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS MERRF Isolated complex I deficiency Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Glycogen storage disease due to muscle beta-enolase deficiency Myopathy and diabetes mellitus Mitochondrial myopathy and sideroblastic anemia Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Autosomal dominant Charcot-Marie-Tooth disease type 2Q Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Centronuclear myopathy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Distal myopathy Congenital myopathy with excess of thin filaments 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 Spinale Muskelatrophie mit assoziierten Anomalien des Zentralnervensystems Kurzketten-Acyl-CoA-Dehydrogenase-Mangel TRAPPC11-assoziierte Gliedergürtelmuskeldystrophie R18 Kongenitale benigne spinale Muskelatrophie, autosomal-dominante Form Spinale Atrophie-Ophthalmoplegie-Pyramidenbahn-Symptomatik-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2DD Krankheit der Vorderhornzellen, autosomal-dominant oder rezessive Myopathie, distale, Typ Tateyama Delta-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R6 Neuropathie, hereditäre motorisch-sensorische, Typ 5 Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel Muskeldystrophie, fazio-skapulo-humerale Scapulo-peroneale Muskeldystrophie, MYH7-abhängige, spät beginnende Form Autosomal-dominante mitochondriale Myopathie mit Belastungsintoleranz X-chromosomale Myopathie mit exzessiver Autophagie Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel Ionenkanalkrankheit, neuromuskuläre, bei genetisch bedingtem Kaliumkanaldefekt Myosin-Speicher-Myopathie Myoglobinurie, autosomal-dominante Muskeldystrophie Typ Duchenne Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2C Muskeldystrophie, tibiale Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2J Polyglucosan-Körper-Myopathie Typ 1 Ophthalmoplegie, chronische externe progressive, maternal-vererbte Defekt des mitochondrialen trifunktionalen Proteins Nebulin-Myopathie, distale, autosomal-rezessive Danon-Krankheit Erworbene Krankheit der Skelettmuskeln Einschlusskörper-Myopathie Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M Myogene Arthrogryposis multiplex congenita, autosomal-rezessive Sphäroidkörper-Myopathie Cap-Myopathie Muskelatrophie, bulbospinale Hereditäre fibröse Poikilodermie-Sehnenkontraktur-Myopathie-Lungenfibrose-Syndrom Muskelatrophie, bulbospinale generalisierte Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2W Idiopathische eosinophile Myositis Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2X Fingerprint-Body-Myopathie Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter Carnitin-Palmitoyl-Transferase II-Mangel Periodische Paralyse mit transienten Kompartment-ähnlichem Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2I Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2A2 Charcot-Marie-Tooth-Krankheit Typ 1B Polymyositis Charcot-Marie-Tooth-Krankheit Typ 1D Rippling-Muskel-Krankheit mit Myasthenia gravis KLHL9-abhängige distale Myopathie mit Beginn in der Kindheit Overlap-Myositis Distale Myopathie durch VCP-Genmutation mit Beginn im Erwachsenenalter Refsum-Krankheit Schwartz-Jampel-Syndrom Glykogenose durch Phosphoglycerat-Mutase-Mangel Guillain-Barré-Syndrom Charcot-Marie-Tooth-Krankheit Typ 1 Dermatomyositis Duchenne- und Becker-Muskeldystrophie Spinale Muskelatrophie mit Atemnot Typ 2 Spinale Muskelatrophie, proximale Myositis-Overlap-Syndrom, juveniles X-chromosomale scapulo-peroneale Muskeldystrophie Motoneuronkrankheit, erworbene Hereditäre Einschlusskörperchenmyopathie-Gelenkkontrakturen-Ophthalmoplegie-Syndrom Gliedergürtelmuskeldystrophie Calpain-3-assoziierte Gliedergürtelmuskeldystrophie R1 Charcot-Marie-Tooth-Krankheit Typ 2P Kongenitale Muskeldystrophie mit Gelenkinstabilität Charcot-Marie-Tooth-Krankheit Typ 1E Spinale Muskelatrophie mit Atemnot Typ 1 O'Sullivan-McLeod-Syndrom Calpain 3-assoziierte Gliedergürtelmuskeldystrophie D4 Alpha-B Crystallin-abhängige spät beginnende Myopathie Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16 Walker-Warburg-Syndrom Periodische Paralyse Isaacs-Syndrom Myopathie, zentronukleäre, autosomal-dominante Gamma-Sarkoglykan-assoziierte Gliedergürtelmuskeldystrophie R5 Myopathie, myofibrilläre Bethlem-Muskeldystrophie Fazio-neuro-muskulo-skelettales Syndrom, zyprischer Typ Titin-assoziierte Gliedergürtelmuskeldystrophie R10 Gliedergürtelmuskeldystrophie, autosomale-dominante FKRP-assoziierte Gliedergürtelmuskeldystrophie R9 Kongenitale Myopathie mit Integrin-alpha-7-Mangel Myositis, fokale Lambert-Eaton-Myasthenie-Syndrom Muskeldystrophie, progressive Kongenitale Myopathie mit reduzierten Typ 2-Muskelfasern Muskeldystrophie - Spongiosis der weissen Gehirnmasse Myopathie, benigne, Typ Samariter Amyotrophe Lateralsklerose Myotone Dystrophie Distale axonale motorische Neuropathie-myofibrilläre Myopathie-Syndrom, HSPB8-assoziiertes