Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength (Human Molecular Genetics, 2019)

(untitled) - Elbaz, M; Ruiz, A; Bachmann, C; Eckhardt, J; Pelczar, P; Venturi, E; Lindsay, C; Wilson, AD; Alhussni, A; Humberstone, T; Pietrangelo, L; Boncompagni, S; et al.