SE-ATLAS

Mitochondrial trifunctional protein deficiency Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome Proximal spinal muscular atrophy type 4 Proximal myotonic myopathy Kearns-Sayre syndrome Amyotrophic lateral sclerosis MERRF Muscular dystrophy Spinal muscular atrophy with respiratory distress type 1 Immune-mediated necrotizing myopathy Mitochondrial neurogastrointestinal encephalomyopathy Barth syndrome Myotonic dystrophy Mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome Distal hereditary motor neuropathy type 2 Isolated succinate-CoQ reductase deficiency Becker muscular dystrophy Steinert myotonic dystrophy DNA2-related mitochondrial DNA deletion syndrome Dermatomyositis Mitochondrial myopathy-lactic acidosis-deafness syndrome Mitochondrial myopathy and sideroblastic anemia Adenosine monophosphate deaminase deficiency Isolated complex I deficiency Distal hereditary motor neuropathy type 1 Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy Distal hereditary motor neuropathy type 7 Facioscapulohumeral dystrophy Duchenne muscular dystrophy Distal hereditary motor neuropathy type 5 Mitochondrial DNA-related progressive external ophthalmoplegia Proximal spinal muscular atrophy type 3 Proximal spinal muscular atrophy type 2 Neuromuscular disease Poliomyelitis Inclusion body myositis Distal spinal muscular atrophy type 3 Pyruvate dehydrogenase E3 deficiency Polymyositis MELAS Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency