Article
Gene-specific increase in the energetic cost of contraction in hypertrophic cardiomyopathy caused by thick filament mutations.
Cardiovascular research - 15 Jul 2014
Witjas-Paalberends E Rosalie, Güçlü Ahmet, Germans Tjeerd, Knaapen Paul, Harms Hendrik J, Vermeer Alexa M C, Christiaans Imke, Wilde Arthur A M, Dos Remedios Cris, Lammertsma Adriaan A, van Rossum Albert C, Stienen Ger J M, van Slegtenhorst Marjon, Schinkel Arend F, Michels Michelle, Ho Carolyn Y, Poggesi Corrado, van der Velden Jolanda
Abstract excerpt
AIMS: Disease mechanisms regarding hypertrophic cardiomyopathy (HCM) are largely unknown and disease onset varies. Sarcomere mutations might induce energy depletion for which until now there is no direct evidence at sarcomere level in human HCM. This study investigated if mutations in genes encoding myosin-binding protein C (MYBPC3) and myosin heavy chain (MYH7) underlie changes in the energetic cost of...
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