Human light meromyosin mutations linked to skeletal myopathies disrupt the coiled coil structure and myosin head sequestration
G. Carrington, A. Hau, S. Kosta…·J. Ochala
This study investigates how mutations in MYH7 and MYH2 genes affect myosin structure and function, finding that they disrupt coiled-coil structure and increase ATP consumption without affecting contractile function.