Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

Bindoff, L A

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