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Young and early-onset dilated cardiomyopathy with malignant ventricular arrhythmia and sudden cardiac death induced by the heterozygous LDB3, MYH6, and SYNE1 missense mutations
Annals of Noninvasive Electrocardiology ( IF 1.9 ) Pub Date : 2021-05-05 , DOI: 10.1111/anec.12840
Ting Zhao 1, 2 , Yuting Ma 2, 3 , Zuoquan Zhang 2 , Jianzhong Xian 2 , Xiaojing Geng 2 , Feng Wang 4 , Jiana Huang 5 , Zhe Yang 2 , Yi Luo 1 , Yubi Lin 2
Affiliation  

The whole exome sequencing (WES) with targeted gene analysis is an effective diagnostic tool for cardiomyopathy. The early-onset sudden cardiac death (SCD) was commonly associated with dilated cardiomyopathy (DCM) induced by pathogenic genetic mutations.

中文翻译:

由 LDB3、MYH6 和 SYNE1 错义突变引起的恶性室性心律失常和心源性猝死的年轻和早发性扩张型心肌病

带有靶向基因分析的全外显子组测序 (WES) 是一种有效的心肌病诊断工具。早发性心源性猝死(SCD)通常与致病性基因突变引起的扩张型心肌病(DCM)有关。
更新日期:2021-05-05
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