TY - JOUR AU - Priori, Silvia G. AU - Napolitano, Carlo T1 - Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels PY - 2005/08/01/ AB - 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. JF - The Journal of Clinical Investigation JA - J Clin Invest SN - 0021-9738 DO - 10.1172/JCI25664 VL - 115 IS - 8 UR - https://doi.org/10.1172/JCI25664 SP - 2033 EP - 2038 PB - The American Society for Clinical Investigation ER -