线粒体性脑肌病(Mitochondrial ence-phalomyopathies)是一组在临床与生化均有显著障碍的异质性疾病。其特征为脑和肌肉线粒体结构和/或功能异常。Shapira等首先在1977年提出该病术语。随后世界各地陆续有散发病例报道。到目前为止,以色列、美国、日本、英国、印度等均发现这类病人,其中以美国和日本报道最 Mitochondrial ence-phalomyopathies are a group of heterogeneous diseases that are clinically and biochemically significant. It is characterized by structural and / or functional abnormalities in the mitochondria of the brain and muscle. Shapira et al first proposed the term in 1977. Subsequently, cases have been reported from all over the world. So far, such patients have been found in Israel, the United States, Japan, the United Kingdom, India, etc., most of which are reported in the United States and Japan