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Article

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.

American journal of human genetics - 1 Jul 2006

Awad Mark M, Dalal Darshan, Cho Eunpi, Amat-Alarcon Nuria, James Cynthia, Tichnell Crystal, Tucker April, Russell Stuart D, Bluemke David A, Dietz Harry C, Calkins Hugh, Judge Daniel P

Abstract excerpt

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a disorder characterized by fibrofatty replacement of cardiac myocytes that typically manifests in the right ventricle. It is inherited as an autosomal dominant disease with reduced penetrance, although autosomal recessive form...

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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: 16773573
DOI: 10.1086/504393
PMCID: PMC1474134

Genes

DSG2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16773573-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.PMID 16773573Read ↗

Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2.Semantic proximity Read ↗

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Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular CardiomyopathySemantic proximity Read ↗

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.Semantic proximity Read ↗

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice.Semantic proximity Read ↗

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Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a review of molecular and clinical literature.Semantic proximity Read ↗

Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.Semantic proximity Read ↗

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

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