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 A.S., Brocard J., Mamchaoui K., Mouly V., Roux-Buisson N., Rendu J., Monnier N., Krivosic R., Allen P., Lacour A., Lunardi J., Fauré J., Marty I. 

J. Neuromuscular Diseases, (2015) 2: 421–432