Associated Papers
Case report of a child with long QT syndrome type 14 caused by CALM1 gene mutation and literature review.
Sun Q et al.
Molecular Genetics & Genomic Medicine, 2024
Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIδ autophosphorylation and L-type calcium channel inactivation.
Prakash O et al.
The Journal of Biological Chemistry, 2023
Protein phenotype diagnosis of autosomal dominant calmodulin mutations causing irregular heart rhythms.
Shaik NA et al.
Journal of Cellular Biochemistry, 2018
Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the Young.
Kotta MC et al.
Frontiers in Cardiovascular Medicine, 2018
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek NJ et al.
Circulation. Cardiovascular Genetics, 2016
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