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Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

European heart journal - 1 Mar 2007

Syrris Petros, Ward Deirdre, Asimaki Angeliki, Evans Alison, Sen-Chowdhry Srijita, Hughes Sian E, McKenna William J

Abstract excerpt

AIMS: Mutations in the desmoglein-2 (DSG2) gene have been reported in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) but clinical information regarding the associated phenotype is at present limited. In this study, we aimed to clinically characterize probands and family members carrying a DSG2 mutation. METHODS AND RESULTS: We investigated 86 Caucasian ARVC patients for mutations in DSG2 by...

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Adolescent
Arrhythmogenic Right Ventricular Dysplasia
Cardiomyopathies
Child
Desmoglein 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17105751
DOI: 10.1093/eurheartj/ehl380

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DSG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.PMID 17105751Read ↗

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.Semantic proximity Read ↗

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

Phenotypic spectrum and prognostic stratification in desmoglein-2-associated arrhythmogenic cardiomyopathy: Results from a pooled analysis.Semantic proximity Read ↗

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

Genotype–phenotype correlation in arrhythmogenic right ventricular cardiomyopathy—risk of arrhythmias and heart failureSemantic proximity Read ↗

Case report of familial sudden cardiac death caused by a DSG2 p.F531C mutation as genetic background when carrying with heterozygous KCNE5 p.D92E/E93X mutation.Semantic proximity Read ↗

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

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.Semantic proximity Read ↗

Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement: a novel splice site mutation in the DSG2 gene.Semantic proximity Read ↗

Desmoglein-2 related Arrhythmogenic Cardiomyopathy: Integrative Genomic and Literature-based analysis with an Italian cohort-Level ValidationSemantic proximity Read ↗

Whole Genome Sequence Identified a Rare Homozygous Pathogenic Mutation of the DSG2 Gene in a Familial Arrhythmogenic Cardiomyopathy Involving Both Ventricles.Semantic proximity Read ↗

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