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Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report

BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms the diagnosis of ARVC is still challenging and requires clinical testing and expe...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Trenkwalder, Teresa, Deisenhofer, Isabel, Hadamitzky, Martin, Schunkert, Heribert, Reinhard, Wibke
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4690428/
https://ncbi.nlm.nih.gov/pubmed/26701096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-015-0263-1
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