[HTML][HTML] Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle
M Richter, L Schleithoff, T Deufel… - Journal of Biological …, 1997 - ASBMB
Malignant hyperthermia is an inherited autosomal disorder of skeletal muscle in which
certain volatile anesthetics and depolarizing muscle relaxants trigger an abnormally high
release of Ca 2+ from the intracellular Ca 2+ store, the sarcoplasmic reticulum. In about 50%
of cases, malignant hyperthermia susceptibility is linked to the gene encoding the skeletal
muscle ryanodine receptor/Ca 2+ release channel (RYR1). To date, eight point mutations
have been identified in human RYR1. Although these mutations are thought to lead to an …
certain volatile anesthetics and depolarizing muscle relaxants trigger an abnormally high
release of Ca 2+ from the intracellular Ca 2+ store, the sarcoplasmic reticulum. In about 50%
of cases, malignant hyperthermia susceptibility is linked to the gene encoding the skeletal
muscle ryanodine receptor/Ca 2+ release channel (RYR1). To date, eight point mutations
have been identified in human RYR1. Although these mutations are thought to lead to an …
