Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein. - Cacheux M; Blum A; Sébastien M; Wozny AS; Brocard J; Mamchaoui K; Mouly V; Roux-Buisson N; Rendu J; Monnier N; Krivosic R; Allen P; et al. (Journal of neuromuscular diseases, 2015)