线粒体肌病为一少见疾病。本文报告７例，其临床表现可分为两种类型：以四肢骨骼肌受侵为主６例；以眼外肌受侵为主１例。７例均进行肌组织活检，电镜观察显示肌膜下和肌原纤维内线粒体数量明显增多，形态也有改变，线粒体嵴异常，基质内含有晶格状或类晶格状包含体；肌纤维内糖原颗粒及脂滴增加。本文还结合文献对线粒体肌病的诊断标准及病因和发病机制进行了讨论。 Mitochondrial myopathy is a rare disease. This article reports 7 cases, its clinical manifestations can be divided into two types: the main extremity skeletal muscle invasion in 6 cases; the main extraocular muscle invasion in 1 case. Seven cases were performed muscle biopsy, electron microscopy showed that the submandibular and myofibrillar mitochondria significantly increased the number of morphological changes, abnormal mitochondrial cristae, matrix containing lattice-like or lattice-like inclusions; intramuscular glycogen Increased particles and lipid droplets. This article also combined with the literature on mitochondrial myopathy diagnostic criteria and etiology and pathogenesis were discussed.