DiMauro S, Bonilla E, De Vivo D C
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
J Child Neurol. 1999 Nov;14 Suppl 1:S23-35. doi: 10.1177/0883073899014001051.
The ubiquitous nature of mitochondria, the dual genetic control of the respiratory chain, and the peculiar rules of mitochondrial genetics contribute to explain the extraordinary clinical heterogeneity of disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). To provide a practical approach to the diagnostic challenge posed by these conditions, we critically review the following criteria: (1) clinical presentation; (2) family history; (3) laboratory data; (4) neuroradiologic patterns; (5) standardized exercise testing; (6) muscle morphology; (7) muscle biochemistry; and (8) molecular genetic screening. Judicious sequential application of these tools should provide help in recognizing patients with mitochondrial disease and define the biochemical and molecular basis of the disorder for each patient. This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis and is a prerequisite for the development of rational therapies, which are still woefully inadequate.
线粒体的普遍存在、呼吸链的双重遗传控制以及线粒体遗传学的特殊规则，有助于解释与氧化磷酸化缺陷相关疾病（线粒体脑肌病）异常的临床异质性。为了提供应对这些疾病所带来诊断挑战的实用方法，我们审慎地回顾了以下标准：（1）临床表现；（2）家族史；（3）实验室数据；（4）神经放射学模式；（5）标准化运动试验；（6）肌肉形态学；（7）肌肉生物化学；以及（8）分子遗传学筛查。明智地依次应用这些工具应有助于识别线粒体疾病患者，并为每位患者确定该疾病的生化和分子基础。这些知识对于准确的遗传咨询和产前诊断必不可少，也是开发合理治疗方法的先决条件，而目前合理治疗方法仍严重不足。
