title: Human mitochondrial respiratory chain deficiencies.
abstract: In this paper selected data from 43 patients with histologically defined mitochondrial myopathies who have been investigated biochemically as previously described are presented. The defect was localized to NADH-ubiquinone oxidoreductase (complex I) in 22 cases and to ubiquinol-cytochrome c oxidoreductase (complex III) in a further 10. Two patients had defects of more than one respiratory enzyme complex and another had a deficiency of H+-ATPase. The lesion was not localized in two cases and in vitro mitochondrial studies were normal in five cases.
authors.affiliation: Institute of Neurology, National Hospital, London, England.
authors.forename: J A
authors.initials: JA
authors.lastname: Morgan-Hughes
authors.forename: A H
authors.initials: AH
authors.lastname: Schapira
authors.forename: J M
authors.initials: JM
authors.lastname: Cooper
authors.forename: D J
authors.initials: DJ
authors.lastname: Hayes
authors.forename: J B
authors.initials: JB
authors.lastname: Clark
mesh_terms: D014450:Electron Transport Complex III / Q000172:deficiency*; D006801:Humans; D008931:Mitochondria, Muscle / Q000201:enzymology*; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000201:enzymology*; D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases / Q000172:deficiency*
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); D011808:Quinone Reductases; D014450:Electron Transport Complex III