Article
Preserved cross-bridge kinetics in human hypertrophic cardiomyopathy patients with MYBPC3 mutations.
Pflugers Archiv : European journal of physiology - 1 Aug 2014
van Dijk Sabine J, Boontje Nicky M, Heymans Martijn W, Ten Cate Folkert J, Michels Michelle, Dos Remedios Cris, Dooijes Dennis, van Slegtenhorst Marjon A, van der Velden Jolanda, Stienen Ger J M
Abstract excerpt
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...
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