Article
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.
European journal of heart failure - 1 Apr 2017
Jansweijer Joeri A, Nieuwhof Karin, Russo Francesco, Hoorntje Edgar T, Jongbloed Jan D H, Lekanne Deprez Ronald H, Postma Alex V, Bronk Marieke, van Rijsingen Ingrid A W, de Haij Simone, Biagini Elena, van Haelst Paul L, van Wijngaarden Jan, van den Berg Maarten P, Wilde Arthur A M, Mannens Marcel M A M, de Boer Rudolf A, van Spaendonck-Zwarts Karin Y, van Tintelen J Peter, Pinto Yigal M
Abstract excerpt
AIMS: Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. METHODS AND RESULTS: We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n =...
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