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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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Библиографические подробности
Опубликовано в: :BMC Med Genet
Главные авторы: Trenkwalder, Teresa, Deisenhofer, Isabel, Hadamitzky, Martin, Schunkert, Heribert, Reinhard, Wibke
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Online-ссылка: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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