Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy

Abstract Background Arrhythmogenic cardiomyopathy (AC) is one of the leading causes for sudden cardiac death (SCD). Recent studies have identified mutations in cardiac desmosomes as key players in the pathogenesis of AC. However, the specific etiology in individual families remains largely unknown....

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Bibliographic Details
Main Authors: Xiaoping Lin, Yuankun Ma, Zhejun Cai, Qiyuan Wang, Lihua Wang, Zhaoxia Huo, Dan Hu, Jian’an Wang, Meixiang Xiang
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Cardiovascular Disorders
Subjects:
Arrhythmogenic cardiomyopathy
Next generation sequencing
Genetic variant
Desmoplakin
Online Access:https://doi.org/10.1186/s12872-020-01369-5

Internet

https://doi.org/10.1186/s12872-020-01369-5

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