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August 12, 2010Heart RhythmOpen Access

Novel missense mutations in exon 15 of desmoglein-2: Role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

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Authors

KGKatja GehmlichUniversity College Birmingham AAAngeliki AsimakiSt George's, University of London TCThomas J. CahillQueen's University Belfast

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Implication

May support targeted genetic testing in ARVC; leaves open validation of plakoglobin loss as a diagnostic marker.

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Key points are not available for this paper at this time.

Cite This Study

Gehmlich et al. (2010) studied this question.

synapsesocial.com/papers/6a7dd45614e877b18fa1480d https://doi.org/10.1016/j.hrthm.2010.08.007

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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease2006 · 158 citations
2Genetics of Right Ventricular Cardiomyopathy2005 · 198 citations
3Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: Proposed Modification of the Task Force Criteria2010 · 1,625 citations
4Arrhythmogenic right ventricular cardiomyopathy/dysplasia2007 · 284 citations
5Diagnostic Value of Endomyocardial Biopsy Guided by Electroanatomic Voltage Mapping in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia2008 · 109 citations