No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy

AIMS: Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the genetic substrate remains unknown. We hypothesized th...

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Detalles Bibliográficos
Autores principales: Hoorntje, Edgar T., Posafalvi, Anna, Syrris, Petros, van der Velde, K. Joeri, Bolling, Marieke C., Protonotarios, Alexandros, Boven, Ludolf G., Amat-Codina, Nuria, Groeneweg, Judith A., Wilde, Arthur A., Sobreira, Nara, Calkins, Hugh, Hauer, Richard N. W., Jonkman, Marcel F., McKenna, William J., Elliott, Perry M., Sinke, Richard J., van den Berg, Maarten P., Chelko, Stephen P., James, Cynthia A., van Tintelen, J. Peter, Judge, Daniel P., Jongbloed, Jan D. H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117038/
https://www.ncbi.nlm.nih.gov/pubmed/30161220
http://dx.doi.org/10.1371/journal.pone.0203078

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