Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia

The Arg-to-Cys point mutation in the ryanodine receptor is sufficient to cause abnormal calcium release in response to 4-chloro-m-cresol, providing direct evidence for its functional role in malignant hyperthermia.