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Calmodulin Mutations Associated with Heart Arrhythmia: A Status Report

19 Feb 2020

Abstract excerpt

Calmodulin (CaM) is a ubiquitous intracellular Ca2+ sensing protein that modifies gating of numerous ion channels. CaM has an extraordinarily high level of evolutionary conservation, which led to the fundamental assumption that mutation would be lethal. However, in 2012, complete exome sequencing of infants suffering from recurrent cardiac arrest revealed de novo mutations in the three human CALM genes. The...

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PMID: 32093079
DOI: 10.3390/ijms21041418

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