SE-ATLAS

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Late-onset Steinert myotonic dystrophy Adult-onset Steinert myotonic dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2R Congenital myasthenic syndromes with glycosylation defect Adenosine monophosphate deaminase deficiency Progressive muscular atrophy X-linked distal hereditary motor neuropathy Hereditary motor and sensory neuropathy type 6 Acute pure sensory neuropathy Acute pandysautonomia Acute sensory ataxic neuropathy Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome Foodborne botulism Distal arthrogryposis type 1 Juvenile idiopathic inflammatory myopathy Myoclonus-dystonia syndrome Spinal muscular atrophy with respiratory distress type 2 Proximal spinal muscular atrophy Antisynthetase syndrome MME-related autosomal dominant Charcot Marie Tooth disease type 2 Megaconial congenital muscular dystrophy Eosinophilic fasciitis 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 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 Spinal muscular atrophy with respiratory distress type 1 Autosomal dominant Charcot-Marie-Tooth disease type 2K Cyprus facial-neuromusculoskeletal syndrome Periodic paralysis Very long chain acyl-CoA dehydrogenase deficiency X-linked scapuloperoneal muscular dystrophy Autosomal dominant distal hereditary motor neuropathy Idiopathic inflammatory myopathy Juvenile overlap myositis Congenital myopathy with myasthenic-like onset Isaacs syndrome Autosomal recessive distal hereditary motor neuropathy Metabolic myopathy Muscular channelopathy Progressive external ophthalmoplegia-myopathy-emaciation syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Y Skeletal muscle disease ISPD-related limb-girdle muscular dystrophy R20 Neuromuscular junction disease Autosomal dominant Charcot-Marie-Tooth disease type 2 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Congenital generalized hypercontractile muscle stiffness syndrome Botulism Distal hereditary motor neuropathy type 1 Distal myopathy with anterior tibial onset Congenital lethal myopathy, Compton-North type Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 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 Autosomal dominant centronuclear myopathy Congenital muscular dystrophy with cerebellar involvement Calpain-3-related limb-girdle muscular dystrophy R1 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 Myxofibrosarcoma Congenital muscular dystrophy without intellectual disability Bickerstaff brainstem encephalitis Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Steinert myotonic dystrophy Muscle-eye-brain disease with bilateral multicystic leucodystrophy Intestinal botulism Adult intestinal botulism DPM3-CDG Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Distal hereditary motor neuropathy type 7 Pleomorphic rhabdomyosarcoma Glycogen storage disease due to acid maltase deficiency, infantile onset Transient neonatal myasthenia gravis Mitochondrial neurogastrointestinal encephalomyopathy TOR1AIP1-related limb-girdle muscular dystrophy Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 Congenital muscular dystrophy with hyperlaxity Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation Juvenile polymyositis Glycogen storage disease due to muscle glycogen phosphorylase deficiency Lambert-Eaton myasthenic syndrome Proximal spinal muscular atrophy type 1 Miyoshi myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Idiopathic dropped head syndrome Toxin-mediated infectious botulism 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 Proximal myopathy with extrapyramidal signs Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Intermediate nemaline myopathy Embryonal rhabdomyosarcoma POGLUT1-related limb-girdle muscular dystrophy R21 Alveolar rhabdomyosarcoma 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 Facial diplegia with paresthesias Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Proximal spinal muscular atrophy type 2 King-Denborough syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2V Proximal spinal muscular atrophy type 4 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Congenital muscular dystrophy with intellectual disability and severe epilepsy Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Kearns-Sayre syndrome Kennedy disease Juvenile dermatomyositis Distal hereditary motor neuropathy Progressive scapulohumeroperoneal distal myopathy Morvan syndrome Spinal muscular atrophy-progressive myoclonic epilepsy syndrome Tubular aggregate myopathy Mitochondrial myopathy-lactic acidosis-deafness syndrome MELAS MERRF Inhalational botulism X-linked Emery-Dreifuss muscular dystrophy Isolated complex I deficiency Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Glycogen storage disease due to acid maltase deficiency, late-onset Symptomatic form of X-linked centronuclear myopathy in female carriers Myopathy and diabetes mellitus Autosomal recessive Emery-Dreifuss muscular dystrophy Mitochondrial myopathy and sideroblastic anemia Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Iatrogenic botulism Autosomal dominant Charcot-Marie-Tooth disease type 2Q Glycogen storage disease due to muscle beta-enolase deficiency Myofibrillar myopathy Centronuclear myopathy X-linked centronuclear myopathy Central core disease Multiminicore myopathy Distal myopathy Congenital multicore myopathy with external ophthalmoplegia Congenital myopathy with excess of thin filaments Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 Postsynaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2B Late-onset distal myopathy, Markesbery-Griggs type Synaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2D Inclusion body myositis Acute motor and sensory axonal neuropathy Autosomal dominant Charcot-Marie-Tooth disease type 2F Early-onset myopathy with fatal cardiomyopathy Miller Fisher syndrome Amish nemaline myopathy Bethlem muscular dystrophy Presynaptic congenital myasthenic syndromes Myosclerosis O'Sullivan-McLeod syndrome Native American myopathy Autosomal dominant limb-girdle muscular dystrophy 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 Titin-related limb-girdle muscular dystrophy R10 Muscular dystrophy, Selcen type Alpha-B crystallin-related late-onset myopathy Autosomal dominant limb-girdle muscular dystrophy type 1E Charcot-Marie-Tooth disease type 1A Fukutin-related limb-girdle muscular dystrophy R13 Calpain-3-related limb-girdle muscular dystrophy D4 Anoctamin-5-related limb-girdle muscular dystrophy R12 Congenital muscular dystrophy with integrin alpha-7 deficiency Distal myopathy with early respiratory muscle involvement FKRP-related limb-girdle muscular dystrophy R9 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Hereditary inclusion body myopathy type 4 Neuromuscular disease Autosomal recessive lower motor neuron disease with childhood onset Laing early-onset distal myopathy Adult polyglucosan body disease Amyotrophic lateral sclerosis Distal myopathy with posterior leg and anterior hand involvement Genetic skeletal muscle disease Myotonic dystrophy Autosomal dominant distal myopathy Non-dystrophic myopathy Focal myositis POMT1-related limb-girdle muscular dystrophy R11 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome Myopathy with hexagonally cross-linked tubular arrays Progressive muscular dystrophy Muscular dystrophy-white matter spongiosis syndrome TRIM32-related limb-girdle muscular dystrophy R8 Autosomal dominant Charcot-Marie-Tooth disease type 2Z Walker-Warburg syndrome Immune-mediated acquired neuromuscular junction disease Mills syndrome Reducing body myopathy Rippling muscle disease Zebra body myopathy Rigid spine syndrome Moderate multiminicore disease with hand involvement Antenatal multiminicore disease with arthrogryposis multiplex congenita Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2W Spinocerebellar ataxia with epilepsy Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome Congenital-onset Steinert myotonic dystrophy Functional variant of Guillain-Barré syndrome Classic multiminicore myopathy Regional variant of Guillain-Barré syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Fatal infantile hypertonic myofibrillar myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Proximal spinal muscular atrophy type 3 Fungal myositis Charcot-Marie-Tooth disease type 2P Infantile myofibromatosis Juvenile primary lateral sclerosis Charcot-Marie-Tooth disease type 1E Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Autosomal recessive distal myopathy Congenital muscular dystrophy Benign Samaritan congenital myopathy Congenital fiber-type disproportion myopathy Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome Desmin-related myopathy with Mallory body-like inclusions Motor neuron disease Tel Hashomer camptodactyly syndrome Epidermolysis bullosa simplex with muscular dystrophy Emery-Dreifuss muscular dystrophy Duchenne and Becker muscular dystrophy Limb-girdle 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 Wound botulism TNP03-related limb-girdle muscular dystrophy D2 HNRNPDL-related limb-girdle muscular dystrophy D3 Adult-onset myasthenia gravis Myotilinopathy Juvenile myasthenia gravis Carey-Fineman-Ziter syndrome Pyruvate dehydrogenase E3 deficiency Primary triglyceride deposit cardiomyovasculopathy 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 Autosomal dominant Emery-Dreifuss muscular dystrophy Congenital muscular dystrophy type 1B Autosomal dominant Charcot-Marie-Tooth disease type 2O Muscle-eye-brain disease Myasthenia gravis Becker muscular dystrophy Congenital myasthenic syndrome Macrophagic myofasciitis 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 Acute inflammatory demyelinating polyradiculoneuropathy Thomsen and Becker disease Acute motor axonal neuropathy 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 Madras motor neuron disease X-linked myotubular myopathy-abnormal genitalia syndrome Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome Cramp-fasciculation syndrome Hypotonia-speech impairment-severe cognitive delay 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 Mitochondrial myopathy Charcot-Marie-Tooth disease type 1F POMT2-related limb-girdle muscular dystrophy R14 POMGNT1-related limb-girdle muscular dystrophy R15 Hereditary continuous muscle fiber activity Variant of Guillain-Barré syndrome Genetic periodic paralysis Primary lateral sclerosis X-linked myopathy with postural muscle atrophy Multiple acyl-CoA dehydrogenase deficiency, mild type Infant botulism Congenital fibrosis of extraocular muscles Infantile-onset ascending hereditary spastic paralysis Congenital limbs-face contractures-hypotonia-developmental delay syndrome Glycogen storage disease due to glycogen branching enzyme deficiency Intellectual disability-developmental delay-contractures syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2U Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 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 Cylindrical spirals myopathy Bulbospinal muscular atrophy of adult Recessive mitochondrial ataxia syndrome Congenital myopathy with cores Freeman-Sheldon syndrome Childhood-onset Steinert myotonic dystrophy Richieri Costa-da Silva syndrome 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 Charcot-Marie-Tooth disease type 2N Carnitine palmitoyl transferase II deficiency, neonatal form Juvenile-onset Steinert myotonic dystrophy Bacterial myositis Autosomal dominant limb-girdle muscular dystrophy type 1B Adenylosuccinate synthetase-like 1-related distal myopathy Severe congenital nemaline myopathy Hyperkalemic periodic paralysis Mitochondrial DNA depletion syndrome, myopathic form Inflammatory myopathy with abundant macrophages Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Paraparetic variant of Guillain-Barré syndrome Guillain-Barré syndrome Barth syndrome Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Sheldon-Hall syndrome Muscular tumor Viral myositis Scapuloperoneal spinal muscular atrophy Parasitic myositis 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 Genetic neuromuscular junction disease Acquired neuromuscular junction disease 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 Charcot-Marie-Tooth disease type 1 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 Dermatomyositis 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 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Neurological muscular channelopathy due to a genetic potassium channel defect Myosin storage myopathy Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 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 Autosomal dominant spastic paraplegia type 17 Mitochondrial DNA-related progressive external ophthalmoplegia Mitochondrial trifunctional protein deficiency Distal nebulin myopathy Rhabdomyosarcoma Glycogen storage disease due to LAMP-2 deficiency Acquired skeletal muscle disease Inclusion myopathy Poliomyelitis Autosomal recessive myogenic arthrogryposis multiplex congenita Ataxia neuropathy spectrum Spheroid body myopathy Cap myopathy Bulbospinal muscular atrophy Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Generalized bulbospinal muscular atrophy LIMS2-related myopathy Postpoliomyelitis syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome Idiopathic eosinophilic myositis BVES-related limb-girdle muscular dystrophy Qazi-Markouizos syndrome Myopathic Ehlers-Danlos syndrome Carnitine palmitoyl transferase II deficiency, myopathic form Fingerprint body myopathy Carnitine palmitoyl transferase II deficiency, severe infantile form Lower motor neuron syndrome with late-adult onset Autosomal dominant Charcot-Marie-Tooth disease type 2M Carnitine palmitoyltransferase II deficiency Acquired motor neuron disease Periodic paralysis with transient compartment-like syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2I Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Polymyositis Adult-onset distal myopathy due to VCP mutation Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth disease type 1D Rippling muscle disease with myasthenia gravis KLHL9-related early-onset distal myopathy Overlap myositis Refsum disease Schwartz-Jampel syndrome Glycogen storage disease due to phosphoglycerate mutase deficiency Congenital myopathy with reduced type 2 muscle fibers Trichinellosis