Familial neuromuscular disease with "myotubes".
D000251:Adenosine Triphosphatases / Q000378:metabolism; D001344:Autopsy; D001706:Biopsy; D002467:Cell Nucleus; D005808:Genes, Recessive; D006801:Humans; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle; D009132:Muscles / Q000473:pathology; D009210:Myofibrils / Q000201:enzymology*; D009468:Neuromuscular Diseases / Q000097:blood / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013194:Staining and Labeling
D000251:Adenosine Triphosphatases