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Article

New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

European journal of human genetics : EJHG - 1 Sept 2013

Andreasen Charlotte, Nielsen Jonas B, Refsgaard Lena, Holst Anders G, Christensen Alex H, Andreasen Laura, Sajadieh Ahmad, Haunsø Stig, Svendsen Jesper H, Olesen Morten S

Abstract excerpt

Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated with these cardiomyopathies, but the disease-causing effect of reported variants is often dubious. In order to identify possible...

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Identifiers

PMID: 23299917
DOI: 10.1038/ejhg.2012.283
PMCID: PMC3746259

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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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