Recurrent and founder mutations in the Netherlands: Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia

Background. Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited cardiac disease with reduced penetrance and a highly variable expression. Mutations in the gene encoding the plakophilin-2 gene (PKP2) are detected in about 50% of ARVC/D patients. The p.Arg79X mutation in...

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Main Authors: van der Zwaag, P.A., Cox, M.G.P.J., van der Werf, C., Wiesfeld, A.C.P., Jongbloed, J.D.H., Dooijes, D., Bikker, H., Jongbloed, R., Suurmeijer, A.J.H., van den Berg, M.P., Hofstra, R.M.W., Hauer, R.N.W., Wilde, A.A.M., van Tintelen, J.P.
Format: Artigo
Sprog:Inglês
Udgivet: Bohn Stafleu van Loghum 2011
Fag:
Original Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3018603/
https://ncbi.nlm.nih.gov/pubmed/21301620
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-010-0839-5
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