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Article

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Heart rhythm - 1 Oct 2016

Pipilas Daniel C, Johnson Christopher N, Webster Gregory, Schlaepfer Jurg, Fellmann Florence, Sekarski Nicole, Wren Lisa M, Ogorodnik Kateryna V, Chazin Daniel M, Chazin Walter J, Crotti Lia, Bhuiyan Zahurul A, George Alfred L

Abstract excerpt

BACKGROUND: Calmodulin (CaM) mutations are associated with cardiac arrhythmia susceptibility including congenital long QT syndrome (LQTS). OBJECTIVE: The purpose of this study was to determine the clinical, genetic, and functional features of 2 novel CaM mutations in children with life-threatening ventricular arrhythmias. METHODS: The clinical and genetic features of 2 congenital arrhythmia cases associated with...

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Source

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Identifiers

PMID: 27374306
DOI: 10.1016/j.hrthm.2016.06.038
PMCID: PMC5035189

Genes

CALM1
CALM2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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