Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca release channels

Here we review the current knowledge about the mutations of the gene encoding the cardiac ryanodine receptor
(RyR2) that cause cardiac arrhythmias. Similarities between the mutations identified in the RyR2 gene and those
found in the gene RyR1 that cause malignant hyperthermia and central core disease are discussed. In vitro functional
characterization of RyR1 and RyR2 mutants is reviewed, with a focus on the contribution that in vitro expression
studies have made to our understanding of related human diseases.