Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy

AIMS: To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated cardiomyopathy (DCM). METHODS AND RESULTS: We screened a cohort of 97 ARVC and 257 DCM unrelated index patients for PLN...

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Hlavní autoři: van der Zwaag, Paul A., van Rijsingen, Ingrid A.W., Asimaki, Angeliki, Jongbloed, Jan D.H., van Veldhuisen, Dirk J., Wiesfeld, Ans C.P., Cox, Moniek G.P.J., van Lochem, Laura T., de Boer, Rudolf A., Hofstra, Robert M.W., Christiaans, Imke, van Spaendonck-Zwarts, Karin Y., Lekanne dit Deprez, Ronald H., Judge, Daniel P., Calkins, Hugh, Suurmeijer, Albert J.H., Hauer, Richard N.W., Saffitz, Jeffrey E., Wilde, Arthur A.M., van den Berg, Maarten P., van Tintelen, J. Peter
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2012
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3475434/
https://ncbi.nlm.nih.gov/pubmed/22820313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/eurjhf/hfs119
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