人类线粒体呼吸链缺陷
Human mitochondrial respiratory chain deficiencies.
作者信息
Morgan-Hughes J A, Schapira A H, Cooper J M, Hayes D J, Clark J B
机构信息
Institute of Neurology, National Hospital, London, England.
出版信息
Aust Paediatr J. 1988;24 Suppl 1:55-7.
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.
本文呈现了43例经组织学确诊为线粒体肌病患者的选定数据，这些患者此前已按所述方法进行了生化检查。22例患者的缺陷定位于NADH-泛醌氧化还原酶（复合体I），另有10例定位于泛醇-细胞色素c氧化还原酶（复合体III）。2例患者存在不止一种呼吸酶复合体缺陷，另1例存在H+-ATP酶缺乏。2例患者的病变未定位，5例患者的体外线粒体研究正常。
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