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Article

Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers.

Journal of the American Heart Association - 11 Dec 2014

Wong Jorge A, Duff Henry J, Yuen Tiffany, Kolman Louis, Exner Derek V, Weeks Sarah G, Gerull Brenda

Abstract excerpt

BACKGROUND: The p.Gln554X mutation in desmocollin-2 (DSC2) is prevalent in ≈10% of the Hutterite population. While the homozygous mutation causes severe biventricular arrhythmogenic right ventricular cardiomyopathy, the phenotypic features and prognosis of heterozygotes remain incompletely understood. METHODS AND RESULTS: Eleven homozygotes (mean age 32±8 years, 45% female), 28 heterozygotes (mean age 40±15...

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Source

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Identifiers

PMID: 25497880
DOI: 10.1161/JAHA.114.001407
PMCID: PMC4338736

Genes

DSC2

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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