Morgan-Hughes J A, Schapira A H, Cooper J M, Clark J B
Institute of Neurology, Queen Square, London.
J Bioenerg Biomembr. 1988 Jun;20(3):365-82. doi: 10.1007/BF00769638.
Defects in Complex I of the mitochondrial respiratory chain have been identified in 38 patients. The clinical and laboratory features are reviewed and the results of recently devised strategies aimed at characterizing the primary molecular and genetic abnormalities are presented. Although not exhaustive, these studies have provided a molecular basis for the contention that defects in Complex I may have their origin in nuclear or in mitochondrial genes.
在38名患者中已发现线粒体呼吸链复合体I存在缺陷。本文回顾了其临床和实验室特征，并展示了最近旨在确定主要分子和基因异常的策略的研究结果。尽管并非详尽无遗，但这些研究为复合体I缺陷可能起源于核基因或线粒体基因这一论点提供了分子基础。
