Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ 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.
Priori
Silvia G
SG
Molecular Cardiology, Istituto di Ricovero e Cura a Carattere Scientifico Fondazione Maugeri, Pavia, Italy. spriori@fsm.it
Napolitano
Carlo
C
D000818:Animals; D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D020512:Myopathy, Central Core / Q000235:genetics* / Q000378:metabolism; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
D019837:Ryanodine Receptor Calcium Release Channel