Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels
Silvia G. Priori, Carlo Napolitano
Silvia G. Priori, Carlo Napolitano
Published August 1, 2005
Citation Information: J Clin Invest. 2005;115(8):2033-2038. https://doi.org/10.1172/JCI25664.
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Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels

Abstract

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.

Authors

Silvia G. Priori, Carlo Napolitano

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Figure 1

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Schematic showing the predicted structure of the cardiac ryanodine recep...
Schematic showing the predicted structure of the cardiac ryanodine receptor, RyR2, including the sites of interaction with ancillary proteins and the phosphorylation sites. Calsequestrin, junctin, and triadin, proteins interacting with ryanodine receptor in the SR, are also depicted. PP, protein phosphatase; P, phosphorylation sites; CaM, calmodulin; CaMKII, calmodulin-dependent protein kinase II. Adapted with permission from the Journal of Molecular and Cellular Cardiology (13).