目的 探讨LMNA相关的先天性肌营养不良症的临床特征和诊断。方法 回顾1 例LMNA基因突变引起的肌 营养不良症病例的临床资料，并复习相关文献。结果 患儿，女，8 个月，临床表现为抬头乏力、眼睑下垂、运动发育迟缓。检测患儿及其父母、姐姐的LMNA基因，显示患儿存在杂合突变c. 94 - 96 del AAG（p.K 32 del），确诊为LMNA突变引起的肌营养不良。患儿父母及姐姐均未发现LMNA基因突变。文献检索显示，LMNA相关的先天性肌营养不良症患儿80%以上 以抬头乏力为主要表现，并且可能交叉重叠存在肢体近端肌无力、运动发育迟缓、轴向肌无力。结论 LMNA基因分析有 助于早期诊断先天性肌营养不良。

Objectives To explore the clinical features and diagnosis of LMNA-associated congenital muscular dystrophy. Methods The clinical data from a case of muscular dystrophy caused by LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results A 8 -month-old female infant suffered from weakness of raising head, eyelid droop, and motor development retardtion. LMNA gene was sequenced for the infant, her parents and the older sister. Heterozygous mutation of c. 94 _ 96 del AAG (p. K 32 del) was found in the infant leading to the diagnosis of LMNA- associated congenital muscular dystrophy. No mutation was found in the infant’s parents and her older sister. The literature review showed that all of LMNA- associated congenital muscular dystrophy patients had LMNA gene mutation, more than 80 % patients mainly presented with weakness of raising head and may accompany with weakness of proximal limb, motor development retardation, and weakness of axial muscle. Conclusions Mutation analysis of LMNA gene is conducive to the diagnosis of congenital muscular dystrophy.