A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates
Hennessey J, Jiang Y, Miller J, Stadt H, Patrick W, Pfeiffer R, Antzelevitch C, Kanter R, Pitt G. A CACNA1C Mutation that Causes a Subset of Timothy Syndrome Phenotypes Correlates. Heart Rhythm 2013, 10: 1745. DOI: 10.1016/j.hrthm.2013.09.026.Peer-Reviewed Original ResearchLong QT syndromeVoltage-dependent inactivationCACNA1C mutationsCav1.2 L-type Ca2Congenital long QT syndromeSkeletal muscleL-type Ca2T phenotypeExtracardiac manifestationsElectrophysiologic studyVentricular tachyarrhythmiasCACNA1C expressionDental abnormalitiesLQTS patientsReporter miceQT syndromeCav1.2 expressionCraniofacial dysmorphiaCanonical mutationsSkeletal myopathyPatientsSyndrome phenotypeSyndromeChromosomal translocationsRecent reports