分析X-连锁腓骨肌萎缩症1型(X-linked Charcot-Marie-Tooth disease type 1,CMT1X)一家系的临床表现、电生理与突变基因特点。该家系为两代4人,共有2例CMT1X患者。先证者12岁起病,先证者母亲40岁起病,两者均表现为进行性肢体无力、萎缩...分析X-连锁腓骨肌萎缩症1型(X-linked Charcot-Marie-Tooth disease type 1,CMT1X)一家系的临床表现、电生理与突变基因特点。该家系为两代4人,共有2例CMT1X患者。先证者12岁起病,先证者母亲40岁起病,两者均表现为进行性肢体无力、萎缩,行走不稳。神经电生理检查均提示:四肢多发感觉运动神经损害(轴索损害为主并脱髓鞘);多发肌肉呈神经源性损害。突变基因分析,先证者存在缝隙连接蛋白B1(gap junction protein Bata-1,GJB1)基因c.283 G>T(p.V95L)半合子突变,先证者母亲存在GJB1基因c.283 G>T(p.V95L),杂合突变。CMT1X是第二常见的腓骨肌萎缩症(Charcot-Marie-Tooth disease,CMT)类型,由GJB1基因突变引起,临床表现为进行性发展的周围神经病可合并中枢神经系统损害,基因检测有助诊断。展开更多
ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 ...ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 cases with the clinical diagnosis of ARVC and Sanger sequencing of the specific variants in family members of the probands.展开更多
文摘ObjectiveTo seek potential pathogenic variants in sarcomere genes in arrhythmogenic cardiomyopathy(ACM)and describe the characteristics.Methods and Results We performed targeted sequencing of 14sarcomere genes in 118 cases with the clinical diagnosis of ARVC and Sanger sequencing of the specific variants in family members of the probands.
