目的　探讨NEB基因变异导致杆状体肌病的临床及遗传学特点。方法　回顾分析2个家系的疑似杆状体肌 病患者及其家庭成员的临床资料，以及利用靶向基因捕获二代测序方法进行的基因测序结果。结果　两个家系的先证者 发病年龄为均在2岁左右，因下肢肌无力、走路不稳就诊。患儿肌张力低下，四肢肌力Ⅳ级；肌电图未见肌源性损害；血清 肌酸激酶（CK）轻度升高。基因检测发现， 1例患儿NEB基因存在c.2227C>T及c.16972G>T复杂杂合突变，分别遗传自父母， 哥哥为c.5971C>T杂合突变携带者；另1例患儿NEB基因存在c.6388G>C及c.17044A>T复杂杂合突变，分别遗传自父母， 患者家属多为携带者。结论　临床上存在肌无力、肌张力低下的患者应警惕先天性杆状肌病可能，基因检测有助于诊断； NEB基因c.5971C>T，c.17044A>T为新发现的突变位点。

Objective　To explore the clinical and genetic characteristics of nemaline myopathy induced by NEB gene mutation. Method　The clinical data of suspected nemaline myopathy patients and their family members in two families and results of gene sequencing using targeted gene capture second-generation sequencing were retrospective analyzed. Results　The age at onset of proband in both families was around 2 years old. They went to see a doctor because of lower limb muscle weakness and unstable walking. The children had low muscle tension with grade IV limb muscle strength. The electromyography showed no myogenic damage. Serum creatine kinase (CK) level was slightly elevated. Complex heterozygous mutations of c.2227C>T and c.16972G>T in NEB gene which were inherited from parents respectively, were found in one patient by gene testing, and the elder brother was a carrier of c.5971C>T heterozygous mutation. In the other patient, there were complex heterozygous mutations of c.6388G> c and c.17044A>T in the NEB gene which were inherited from the parents respectively. Most of their family members were carriers. Conclusion In patients with myasthenia and hypotonia clinicians should be alert to the possibility of congenital nemaline myopathy. Gene testing is helpful for diagnosis. Both c.5971C>T and c.17044A>T in NEB gene are newly discovered mutation site.