DiMauro S, Andreu A L, Musumeci O, Bonilla E
Department of Neurology, Columbia University College of Physicians & Surgeons, New York, New York 10032, USA.
Semin Neurol. 2001 Sep;21(3):251-60. doi: 10.1055/s-2001-17942.
Mitochondrial encephalomyopathies are disorders due to biochemical defects in the respiratory chain, which is under dual genetic control: 13 proteins are encoded by mitochondrial DNA (mtDNA), while all others are encoded by nuclear DNA. In the past 12 years, the small circle of mtDNA has proven to be a Pandora's box of pathogenic mutations, associated with a bewildering variety of multisystemic or tissue-specific disorders. After summarizing the principles of mitochondrial genetics, we attempt to provide general principles and practical clues to the diagnosis of mtDNA-related disorders by reviewing sequentially clinical presentation, family history, laboratory data, neuroradiology, exercise physiology, muscle morphology, muscle biochemistry, and molecular genetics.
线粒体脑肌病是由呼吸链中的生化缺陷引起的疾病，呼吸链受双重遗传控制：13种蛋白质由线粒体DNA（mtDNA）编码，而所有其他蛋白质由核DNA编码。在过去12年中，mtDNA的小圆圈已被证明是一个充满致病突变的潘多拉魔盒，与各种各样令人困惑的多系统或组织特异性疾病相关。在总结线粒体遗传学原理后，我们试图通过依次回顾临床表现、家族史、实验室数据、神经放射学、运动生理学、肌肉形态学、肌肉生物化学和分子遗传学，为mtDNA相关疾病的诊断提供一般原则和实用线索。
