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Phenotypic Analysis of Arrhythmogenic Cardiomyopathy in the Hutterite Population: Role of Electrocardiogram in Identifying High‐Risk Desmocollin‐2 Carriers

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 understoo...

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Detalles Bibliográficos
Autores principales: Wong, Jorge A., Duff, Henry J., Yuen, Tiffany, Kolman, Louis, Exner, Derek V., Weeks, Sarah G., Gerull, Brenda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338736/
https://www.ncbi.nlm.nih.gov/pubmed/25497880
http://dx.doi.org/10.1161/JAHA.114.001407