摘要目的 探讨1例肢带型肌营养不良2G亚型(limb-girdle muscular dystrophy type 2G,LGMD 2G)患者的临床、病理特点及基因突变情况.方法 对1例LGMD 2G患者进行临床资料收集及骨骼肌病理检查,PCR扩增患者TCAP基因的全部外显子,通过直接测序检测突变情况,并结合文献进行总结.结果 该患者临床表现符合肢带型肌营养不良,骨骼肌病理可见镶边空泡肌纤维,基因检测发现LGMD 2G致病基因TCAP基因存在复合杂合突变(c.100delC,c.166insG).结论 LGMD 2G的诊断需综合患者临床、病理分析,但最终确诊需结合基因诊断.

abstractsObjective To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).Methods Clinical data of the patient was analyzed.Exons of the TCAP gene were amplified and sequenced.Results The patient has presented clinically as LGMD and pathologically as vacuolar myopathy.Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC,c.166insG).Conclusion LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity.Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.