Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations

S.J. van Dijk, N.M. Boontje, M.W. Heymans, F.J. ten Cate, M. Michels, C. dos Remedios, D. Dooijes, M.A. van Slegtenhorst, J. van der Velden, G.J.M. Stienen

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11 Citations (Scopus)


Mutations in the MYBPC3 gene, encoding cardiac myosin binding protein C (cMyBP-C) are frequent causes of hypertrophic cardiomyopathy (HCM). Previously, we have presented evidence for reduced cMyBP-C expression (haploinsufficiency), in patients with a truncation mutation in MYBPC3. In mice, lacking cMyBP-C cross-bridge kinetics was accelerated. In this study, we investigated whether cross-bridge kinetics was altered in myectomy samples from HCM patients harboring heterozygous MYBPC3 mutations (MYBPC3
Original languageEnglish
Pages (from-to)1619-1633
JournalPflügers Archiv European Journal of Physiology
Issue number8
Publication statusPublished - 2014

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