title: A study of a family with inherited disease of cardiac and skeletal muscle. Part II. Skeletal muscle morphology and mitochondrial oxidative phosphorylation.
abstract: Skeletal muscle morphology and mitochondrial oxidative phosphorylation capacity were examined in a family whose members showed very combinations of mental subnormality, cardiomyopathy and muscle weakness. Light and electron microscopic findings suggested a neuropathic process, while tests of mitochondrial function indicated a state of tight coupling of oxidative phosphorylation, a feature in marked contrast to those in biochemical studies so far reported.
mesh_terms: D000255:Adenosine Triphosphate / Q000032:analysis; D001706:Biopsy; D009202:Cardiomyopathies / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D003576:Electron Transport Complex IV / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000378:metabolism* / Q000648:ultrastructure*; D009132:Muscles / Q000032:analysis / Q000648:ultrastructure; D009135:Muscular Diseases / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000378:metabolism; D010085:Oxidative Phosphorylation; D010725:Phosphocreatine / Q000032:analysis
chemical_list: D010725:Phosphocreatine; D000255:Adenosine Triphosphate; D009245:NADH Dehydrogenase; D003576:Electron Transport Complex IV