GeneticsbioRxivPreprint
MYBPC3 Mutations cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy
Christopher N. Toepfer, Hiroko Wakimoto, Amanda C. Garfinkel…·Christine E. Seidman
The paper shows that MYBPC3 mutations disrupt myosin relaxation states, leading to hyper-contractility in HCM, and that targeting myosin can alleviate these effects.