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Article

Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features.

The Canadian journal of cardiology - 1 Jan 2022

Wu Guixin, Liu Jie, Ruan Jieyun, Yu Shiqin, Wang Limei, Zhao Shihua, Wang Shuiyun, Kang Lianming, Wang Jizheng, Song Lei

Abstract excerpt

BACKGROUND: Deleterious rare variants in genes encoding desmosome proteins have been identified as the essential basis of arrhythmogenic cardiomyopathy (ACM) and detected in dilated cardiomyopathy, but the relationship between deleterious rare desmosomal variants and hypertrophic cardiomyopathy (HCM) remains unknown. METHODS: Whole exome sequencing was performed in 1000 patients with HCM and 761 non-HCM controls...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ventricular Function, Right

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Source

Identifiers

PMID: 34500006
DOI: 10.1016/j.cjca.2021.08.022

Provenance

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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