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Article

Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.

International journal of cardiology - 1 Jan 2020

Chen Peng, Li Zongzhe, Yu Bo, Ma Fei, Li Xianqing, Wang Dao Wen

Abstract excerpt

BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare cardiac disease predominantly caused by variants in desmosome genes. Variants in human Desmoglein-2 (DSG2) gene can cause ARVC with incomplete penetrance. However, it remains unknown whether ARVC would penetrate by distal myopathy. METHODS: We performed targeted next-generation sequencing using a cardiomyopathy/ionchannelopathy panel in...

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Identifiers

PMID: 31653443
DOI: 10.1016/j.ijcard.2019.10.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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