目的　为了探讨神经肌肉性疾病的发病与线粒体 DNA突变的关系。方法　采用 PCR技术检测 18例患有不同神经肌肉性疾病患者的外周血和骨骼肌细胞中的线粒体 DNA(mt NNA)。结果　其中 5例患者有 mt DNA5 2 6 bp片段缺失 ,此缺失区位于线粒体呼吸链复合物的编码区。结论　表明该突变对神经肌肉性疾病的发生有一定作用 Objective To investigate the relationship between the incidence of neuromuscular diseases and mitochondrial DNA mutations. Methods Mitochondrial DNA (mt NNA) was detected in peripheral blood and skeletal muscle cells from 18 patients with different neuromuscular diseases by PCR. Results Among them, 5 cases had deletion of mt DNA5 26 bp fragment, which was located in the coding region of mitochondrial respiratory chain complex. The conclusion shows that the mutation has a certain effect on the occurrence of neuromuscular diseases