发现某些神经肌肉疾病系线粒体DNA 突变所致,这是近几年神经病学和遗传病学的最新进展。它对一些具有遗传倾向的某些疾病的病因学研究带来了希望。作者就线粒体DNA 点突变、缺失及重复与某些神经肌肉疾病的关系,以及机制和前景作一综述。 Some neuromuscular diseases were found to be caused by mutations in mitochondrial DNA, the latest advances in neurology and genetic medicine in recent years. It offers hope for the etiology of some diseases with a genetic predisposition. The authors review the relationship between mitochondrial DNA point mutations, deletions and repetitions, and certain neuromuscular diseases, as well as their mechanisms and prospects.