Condition: LONG QT SYNDROME 14
rs267607277 in
CALM1 gene and
LONG QT SYNDROME 14
PMID 23040497 2012 Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
PMID 26309258 2015 Arrhythmogenic Calmodulin Mutations Affect the Activation and Termination of Cardiac Ryanodine Receptor-mediated Ca2+ Release.
PMID 24563457 2014 Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
PMID 25557436 2015 Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes.
PMID 24816216 2014 Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.