Effects of Point Mutations of Dysferlin on Ca2+ Signaling in Murine Skeletal Myofibers

We used osmotic shock injury (OSI) to show that dysferlin modulates the coupling of excitation to Ca2+ release in skeletal myofibers (Kerr et al., PNAS, 2013; Lukyanenko et al., J. Physiol., 2017). Here we studied dysferlin-null A/J FDB myofibers expressing fluorescent dysferlins to examine the effect of point mutations on coupling. We studied these mutants: pathogenic: Dysf-W52R, -V67D, -L189V, -V374L, -R555W, -R803H, -W999C, -I1298V; likely...