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Article

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.

American journal of human genetics - 1 Dec 2006

Heuser Arnd, Plovie Eva R, Ellinor Patrick T, Grossmann Katja S, Shin Jordan T, Wichter Thomas, Basson Craig T, Lerman Bruce B, Sasse-Klaassen Sabine, Thierfelder Ludwig, MacRae Calum A, Gerull Brenda

Abstract excerpt

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous heart-muscle disorder characterized by progressive fibrofatty replacement of right ventricular myocardium and an increased risk of sudden cardiac death. Mutations in desmosomal proteins that cause ARVC have been previously described; therefore, we investigated 88 unrelated patients with the disorder for mutations in human...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17186466
DOI: 10.1086/509044
PMCID: PMC1698714

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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Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.PMID 17186466Read ↗

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