Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. [electronic resource]
Producer: 19910828Description: 17-24 p. digitalISSN:- 0022-510X
- 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
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.; Review
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