关键词: 肢带型肌营养不良1B型；　LMNA基因；　新生突变

Abstract: 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.

Key words: 　 limb-girdle muscular dystrophy 1B;　LMNA gene;　de novo mutation