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

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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.

Original languageEnglish
Pages (from-to)2033-2038
Number of pages6
JournalJournal of Clinical Investigation
Volume115
Issue number8
DOIs
Publication statusPublished - Aug 2005

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ASJC Scopus subject areas

  • Medicine(all)

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