Familial hypertrophic cardiomyopathy: Functional effects of myosin mutation R723G in cardiomyocytes

T. Kraft, E.R. Witjas-Paalberends, N. Boontje, S. Tripathi, A. Brandis, J. Montag, J.L. Hodgkinson, A. Francino, F. Navarro-Lopez, B. Brenner, G.J.M. Stienen, J. van der Velden

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Abstract

Familial Hypertrophic Cardiomyopathy (FHC) is frequently caused by mutations in the β-cardiac myosin heavy chain (β-MyHC). To identify changes in sarcomeric function triggered by such mutations, distinguishing mutation effects from other functional alterations of the myocardium is essential. We previously identified a direct effect of mutation R723G (MyHC
Original languageEnglish
Pages (from-to)13-22
JournalJournal of molecular and cellular cardiology
Volume57
DOIs
Publication statusPublished - 2013

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