Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. [electronic resource]
- Journal of the neurological sciences Mar 1991
- 17-24 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
0022-510X
10.1016/0022-510x(91)90088-o doi
Adult Cerebellar Ataxia--enzymology Child, Preschool Cytochrome-c Oxidase Deficiency DNA, Mitochondrial--analysis Electron Transport Complex II Electron Transport Complex III--deficiency Epilepsies, Myoclonic--enzymology Hearing Loss, Sensorineural--enzymology Humans Intellectual Disability--enzymology Male Mitochondria--enzymology Multienzyme Complexes--deficiency NAD(P)H Dehydrogenase (Quinone) Neuromuscular Diseases--enzymology Oxidative Phosphorylation Oxidoreductases--deficiency Quinone Reductases--deficiency Succinate Dehydrogenase--deficiency Syndrome