肌阵挛癫痫伴破碎红纤维 (MERRF)是最早认识的由点突变造成的伴有破碎红纤维 (RRF)的多系统疾病 ,是三个主要的线粒体脑肌病之一 ,本文就MERRF的分子致病机制进行综述 ,并介绍了基因诊断及遗传咨询等方面的研究进展。 Myocardial clitus epilepsy with broken red fiber (MERRF) is the earliest known point mutation caused by the broken system with multiple fiber diseases (RRF) is one of the three major mitochondrial encephalomyopathy, this article MERRF molecules Pathogenic mechanism were reviewed, and introduced the genetic diagnosis and genetic counseling aspects of research progress.