Abstract
Mutations in the gene (MYBPC3) coding for cardiac myosin-binding protein-C (cMyBP-C) are the most common cause of familial Hypertrophic CardioMyopathy (HCM). The E258K-cMyBP-C is a highly penetrant missense mutation with a founder effect in Tuscany (Italy). We have recently investigated the mechanics and kinetics of contraction as well the energetic cost of tension generation using left ventricular (LV) tissue from three E258K HCM patients and compared to those from donor hearts and HCM patients negative for sarcomeric protein mutations.
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