SE-ATLAS

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 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 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 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 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 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 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 Late-onset distal myopathy, Markesbery-Griggs type Inclusion body myositis 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 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 Myopathy with hexagonally cross-linked tubular arrays Immune-mediated acquired neuromuscular junction disease 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 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 Potassium-aggravated myotonia Thomsen and Becker disease Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 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 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 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 Myopathie infectieuse, fongique ou parasitaire Déficit multiple en acyl-CoA déshydrogénases Dystrophie musculaire Syndrome de myopathie à inclusions-maladie de Paget-démence fronto-temporale Syndrome de délétion de l'ADN mitochondrial associée à DNA2 Myopathie centronucléaire autosomique récessive Dystrophie musculaire des ceintures autosomique dominante type 1B Myopathie distale associée à l'adénylosuccinate synthétase-like 1 Myopathie congénitale sévère à némaline Paralysie périodique hyperkaliémique Déplétion de l'ADN mitochondrial, forme myopathique Myopathie inflammatoire avec abondance de macrophages Syndrome de Barth Syndrome d'encéphalopathie progressive à début précoce-ataxie spastique-amyotrophie spinale distale Amyotrophie spinale scapulopéronière Myopathie autosomique récessive avec ophtalmoplégie externe de l'enfant Dystrophie musculaire scapulo-péronière tardive à corps hyalins Syndrome scapulo-péronier neurogénique type Kaeser Déficit systémique primaire en carnitine Lipidose avec surcharge en triglycérides Amyotrophie spinale associée à une malformation du système nerveux central Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte Dystrophie musculaire des ceintures associée à TRAPPC11 R18 Amyotrophie spinale bénigne congénitale autosomique dominante Syndrome d'atrophie spinale-ophtalmoplégie-syndrome pyramidal Maladie génétique du motoneurone Myopathie distale type Tateyama Dystrophie musculaire des ceintures liée au delta-sarcoglycane R6 Dystrophie musculaire congénitale liée à la sous-unité alpha 2 de la laminine Dystrophie facio-scapulo-humérale Myopathie mitochondriale autosomique dominante avec intolérance à l'effort Myopathie avec autophagie excessive liée à l'X Glycogénose par déficit en phosphorylase kinase hépatique et musculaire Canalopathie neurologique génétique associée au canal potassique musculaire Myopathie avec surcharge en myosine Myoglobinurie autosomique dominante Dystrophie musculaire de Duchenne Dystrophie musculaire tibiale Myopathie à corps de polyglucosane type 1 Ophtalmoplégie externe progressive due à une mutation de l'ADN mitochondrial Déficit en protéine trifonctionnelle mitochondriale Myopathie distale précoce associée à la nébuline Glycogénose par déficit en LAMP-2 Maladie acquise du muscle squelettique Myopathie à inclusion Arthrogrypose multiple congénitale myogénique autosomique récessive Myopathie à corps sphéroïdes Myopathie à casquette Amyotrophie bulbospinale Syndrome de poïkilodermie héréditaire fibrosante-myopathie rétractile-fibrose pulmonaire Amyotrophie spinale généralisée Myosite éosinophile idiopathique Dystrophie musculaire des ceintures associée à BVES Myopathie à empreintes digitales Syndrome du motoneurone inférieur, forme tardive de l'adulte Déficit en carnitine palmitoyltransférase II Paralysie périodique avec pseudo-syndrome des loges transitoire Polymyosite Rippling muscle disease avec myasthenia gravis Myopathie distale précoce associée à KLHL9 Myosite de chevauchement Myopathie distale de l'adulte due à des mutations de VCP Maladie de Refsum Syndrome de Schwartz-Jampel Glycogénose par déficit en phosphoglycérate mutase Syndrome de Guillain-Barré Maladie de Charcot-Marie-Tooth type 1 Dermatomyosite Dystrophie musculaire de Duchenne et Becker Amyotrophie spinale avec détresse respiratoire type 2 Amyotrophie spinale proximale Myosite de chevauchement juvénile Dystrophie musculaire scapulo-péronière liée à l'X Maladie acquise du motoneurone Syndrome héréditaire de myopathie à corps d'inclusions-contractures articulaires-ophtalmoplégie Dystrophie musculaire des ceintures liée à la calpaïne-3 R1 Dystrophie musculaire congénitale avec hyperlaxité Amyotrophie spinale avec détresse respiratoire type 1 Syndrome d'O'Sullivan-McLeod Dystrophie musculaire des ceintures liée à la calpaïne-3 D4 Myopathie tardive associée à l'alpha-B cristalline Dystrophie musculaire des ceintures liée à l'alpha dystroglycane R16 Syndrome de Walker-Warburg Dystrophie musculaire des ceintures Paralysie périodique Syndrome d'Isaacs Myopathie centronucléaire autosomique dominante Dystrophie musculaire des ceintures liée au gamma-sarcoglycane R5 Myopathie myofibrillaire Dystrophie musculaire de Bethlem Syndrome neuro-musculo-squelettique type chypriote Dystrophie musculaire des ceintures liée à la titine R10 Dystrophie musculaire des ceintures autosomique dominante Dystrophie musculaire des ceintures associée à FKRP R9 Dystrophie musculaire congénitale par déficit en intégrine alpha-7 Myosite focale Dystrophie musculaire progressive Myopathie congénitale avec réduction des fibres musculaires de type 2 Syndrome de dystrophie musculaire-substance blanche cérébrale spongieuse Myopathie congénitale bénigne des Samaritains Syndrome myasthénique de Lambert-Eaton Syndrome autosomique dominant de neuropathie motrice distale axonale-myopathie myofibrillaire Sclérose latérale amyotrophique Dystrophie myotonique