Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase?
We describe three patients with mitochondrial myopathy, dementia, loss of vision and hearing, seizure disorder with myoclonus, intermittent headaches of a vascular type, visual hallucinations, cerebellar dysfunction, and lactic acidosis. Muscle biopsies in all patients and liver biopsy in one revealed abnormal mitochondria. The disorder may be due to a deficiency of mitochondrial NADH-CoQ dehydrogenase.
D000293:Adolescent; D000328:Adult; D001927:Brain Diseases / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D008931:Mitochondria, Muscle / Q000648:ultrastructure*; D009135:Muscular Diseases / Q000378:metabolism* / Q000473:pathology; D016660:NAD(P)H Dehydrogenase (Quinone); D009247:NADH, NADPH Oxidoreductases / Q000172:deficiency*; D011808:Quinone Reductases / Q000172:deficiency*
D009247:NADH, NADPH Oxidoreductases; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases