Identification of a LMNA (c.646C＞T) variant by whole-exome sequencing in combination with a dilated cardiomyopathy (DCM) related gene filter in a family with familiar DCM
Liang Chen
Zhongyin Zhou
Huihe Lu
Ye Xie
Gang Li
Jianfei Huang
Dongsheng Zhao
摘要：Dilated cardiomyopathy (DCM) is characterized by the dilated heart chambers and reduced systolic function in the absence of specific aetiology[1].Approximately one third of DCM cases are hereditary.In recent years,DCM concomitant with arrhythmias and sudden death resulting from gene mutation has been widely reported[2].In the current study,we report the identification of a mutation within lamin A (LMNA) (p.R216C) in a Han Chinese family with similar cardiac manifestations by using whole-exome sequencing in combination with a related gene filter and co-segregation analysis.
机标关键词：
分类号：R541.1(心脏、血管（循环系）疾病)
论文发表日期：2018-01-01
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：3( 314-316 )