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Article

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

BMC cardiovascular disorders - 11 Feb 2020

Lin Xiaoping, Ma Yuankun, Cai Zhejun, Wang Qiyuan, Wang Lihua, Huo Zhaoxia, Hu Dan, Wang Jian'an, Xiang Meixiang

Abstract excerpt

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. METHODS: A 4-generation family presenting with syncope, lethal ventricular arrhythmia and SCD was recruited. Targeted next...

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Source

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Identifiers

PMID: 32046637
DOI: 10.1186/s12872-020-01369-5
PMCID: PMC7011609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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