RYR1 mutations linked to malignant hyperthermia susceptibility are associated with phenotypic changes in human B-lymphocytes
Ryanodine receptor 1 (RyR1) is a key intracellular Ca2+ release channel primarily expressed in skeletal muscle, but also in some immune cells. Gain-of-function RYR1 mutations are the most common cause of the pharmacogenetic disorder malignant hyperther…