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  • Title: Human mitochondrial respiratory chain deficiencies.
    Author: Morgan-Hughes JA, Schapira AH, Cooper JM, Hayes DJ, Clark JB.
    Journal: Aust Paediatr J; 1988; 24 Suppl 1():55-7. PubMed ID: 2849394.
    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.
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