关键词: 肢带型肌营养不良；　肌无力；　基因突变；　纯合/杂合

Abstract: 　Objective　To explore the clinical and genetic variation of limb-girdle muscular dystrophy (LGMD). Method The clinical manifestations, results of laboratory, electrophysiological and genetic examinations of 5 LGMD patients from 4 families were collected. The clinical characteristics and gene mutation sites of LGMD were discussed in combination with literature. Results　The 5 patients (3 boys and 2 girls) aged from 3 years and 3 months to 19 years were from 4 families. One patient only had a significant increase in serum creatine kinase for unknown reasons, and the other four patients had varying degrees of muscle weakness. The gene tests found pathogenic mutations in all patients, including CAPN3 complex heterozygous mutation (c.632+4A>G, c.725dupG) in 1 case and SGCB homozygous mutation (c.1A>G) in 1 case and SGCG homozygous mutation (c.768delC and c.320C>T)in 3 cases. Among them, c.320C>T mutation was a new mutation site not reported before. According to the clinical manifestations and genetic testing results, 3 cases of LGMD 2C and 1 case of LGMD 2A and1 case of LGMD 2E were confirmed. All of these cases were autosomal recessive inheritance. Conclusion　Gene detection is helpful for the diagnosis and genetic consultation of LGMD.

Key words: 　limb-girdle muscular dystrophy;　myasthenia;　gene mutation;　homozygous/ heterozygous