Whole-Exome Sequencing Identifies a Novel Mutation of Desmocollin 2 in a Chinese Family With Arrhythmogenic Right Ventricular Cardiomyopathy
发布时间：2017-03-30
点击次数：
影响因子：2.57
发表刊物：Am J Cardiol
摘要：Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin. In this study,
备注：Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, includi
合写作者：Xiang R, Li J J, Fan L L, Liu J S
论文类型：基础研究
学科门类：生物学
文献类型：J
卷号：119
期号：9
页面范围：1485-1489
ISSN号：0002-9149
是否译文：否
发表时间：2017-05-01
收录刊物：SCI
发布期刊链接：http://www.sciencedirect.com/science/article/pii/S0002914917301108