Article
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy.
European journal of heart failure - 1 Nov 2012
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
Abstract excerpt
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 mutations and evaluated their clinical characteristics. PLN mutation R14del was identified in 12 (12 %) ARVC...
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