目的:对1例以肌痛为主要临床表现的Becker肌营养不良症(Becker muscular dystrophy，BMD)的家系进行遗传学分析，并回顾分析以肌痛为主要症状的BMD患者的n DMD基因变异，以期为疾病的早期诊断提供依据。n 方法:对患者进行临床资料采集并完善肌酶、肌电图等辅助检查，利用多重连接探针扩增技术(multiplex ligation-dependent probe amplification，MLPA)和高通量技术进行基因检测，Sanger测序法进行验证；分析已报道的以肌痛为主要症状的BMD患者的基因变异特征。结果:先证者的主要临床表现为肌痛和血清肌酸激酶(creatine kinase，CK)升高，家系中另1例患者的临床表现类似；基因测序显示先证者和患病的舅舅n DMD基因存在第10~29外显子半合子缺失，其母亲为杂合缺失携带者，父亲为野生型；根据美国医学遗传学与基因组学学会遗传变异分类标准与指南，该变异判定为致病变异(PVS1+PM2+PP1)。n 结论:肌痛伴血清CK升高可以是BMD的不典型临床表现，BMD的肌痛症状可能与n DMD基因中央棒状结构域外显子缺失变异相关，n DMD基因第10~29外显子缺失可能为该家系患者的致病原因，基因检测结果可以为临床诊断提供依据。n “,”Objective:To explore the genetic basis of a Chinese pedigree affected with Becker muscular dystrophy (BMD) with myalgia as the main feature.Methods:Clinical data of the patients and results of auxiliary examinations were retrospectively analyzed. Multiplex ligation-dependent probe amplification and high-throughput sequencing were used to detect potential variants. Sanger sequencing was used to verify the results.Results:The clinical manifestations of the proband included myalgia and elevated serum creatine kinase, which is similar to another patient from the pedigree. Genetic testing revealed that the two patients both harbored hemizygous deletions of exons 10 to 29 of the n DMD gene, for which the mother was a carrier. The same deletion was not found in his father. Based on the guidelines from American College of Medical Genetics and Genomics, the deletion was predicted to be pathogenic (PVS1+ PM2+ PP1).n Conclusion:Myalgia with elevated serum CK may be atypical clinical manifestations of BMD and may be associated with variants in the rod domain of the n DMD gene. The deletion of exons 10 to 29 of the n DMD gene probably underlay the BMD in this pedigree.n