目的　了解LMNA基因突变相关的肢带型肌营养不良1B型（LGMD 1B）的临床表型、诊断及遗传学特点。 方法　回顾分析1例 LMNA基因新生突变引起的LGMD 1B患儿的临床及分子遗传学资料，并复习相关文献。结果　女 性患儿， 5岁，主要表现为双下肢明显无力、上肢轻度无力。基因检测显示LMNA基因存在c.1580G>C杂合错义突变，该 突变导致第527号氨基酸由Arg变为Pro。患儿父母、 2个姐姐及妹妹在该位点均为野生型。患儿确诊为LMNA基因新生 突变引起的LGMD 1B型。LMNA基因为LGMD 1B的致病基因。基因突变引起肌细胞功能蛋白异常，累及肌纤维所有结 构。结论　LMNA基因检测可早期诊断LGMD 1B型。

Objectives To explore the clinical phenotypes, diagnosis and genetic characteristics of LMNA related limbgirdle muscular dystrophy 1B (LGMD IB). Methods　The clinical data of one case of limb-girdle muscular dystrophy 1B with LMNA gene mutation were retrospectively analyzed. The related literatures were reviewed. Results　The proband, a 5 yearold female, presented with weakness of lower extremities, and mild upper limb weakness. Mutation screening of LMNA gene in the proband and their parents, three sisters identified a de novo heterozygous missense mutation of c.1580G>C (p.Arg527Pro) in LMNA. She was confirmed as LMNA gene mutation related limb-girdle muscular dystrophy 1B. The literature search revealed limb-girdle muscular dystrophy 1B and LMNA gene-related children is a kind of myopathy in the proximal limb muscles (pelvic and shoulder girdle muscle) muscle weakness as the main manifestation of myopathy, and may accompanied with heart block and dilated cardiomyopathy. The LMNA gene is a causative gene of LGMD IB, and its mutations cause muscle cell dysfunction involving all structures of muscle fibers. Conclusions　LMNA gene screening is conducive to early diagnosis of limb-girdle muscular dystrophy 1B.