Novel model of distal myopathy caused by the myosin rod mutation R1500P disrupts acto-myosin binding
Genevieve C. K. Wilson, Ada E. Buvoli, Massimo Buvoli, Kathleen C. Woulfe, Lori A. Walker, Leslie Anne Leinwand
This paper describes a mouse model of Laing distal myopathy caused by the R1500P mutation in {beta}-myosin, showing structural and functional muscle defects and weakened acto-myosin binding.
bioRxiv · Sep 8, 2019 · PreprintMolecular Biology