Familial oculocranioskeletal neuromuscular disease with abnormal muscle mitochondria.
D000135:Acid Phosphatase / Q000378:metabolism; D000251:Adenosine Triphosphatases / Q000378:metabolism; D000328:Adult; D001763:Blepharoptosis / Q000235:genetics; D003680:Deglutition Disorders / Q000235:genetics; D005158:Facial Paralysis / Q000235:genetics; D005260:Female; D006003:Glycogen / Q000378:metabolism; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D050356:Lipid Metabolism; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009132:Muscles / Q000201:enzymology / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D009210:Myofibrils / Q000648:ultrastructure; D009247:NADH, NADPH Oxidoreductases / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009886:Ophthalmoplegia / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome
D006003:Glycogen; D009247:NADH, NADPH Oxidoreductases; D000135:Acid Phosphatase; D000251:Adenosine Triphosphatases