[HTML][HTML] Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels

SG Priori, C Napolitano - The Journal of clinical …, 2005 - Am Soc Clin Investig
The Journal of clinical investigation, 2005Am Soc Clin Investig
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.
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.
The Journal of Clinical Investigation