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A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D

Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Cl...

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Detalles Bibliográficos
Autores principales: Mahdieh, Nejat, Saedi, Sedigheh, Soveizi, Mahdieh, Rabbani, Bahareh, Najafi, Nasim, Maleki, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Iran University of Medical Sciences 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6025913/
https://www.ncbi.nlm.nih.gov/pubmed/29977873
http://dx.doi.org/10.14196/mjiri.32.5