Article details

van der Zwaag et al. European Journal of Heart Failure 2012;14:1199-207.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PLN2R14delc.40_42delAGAp.Arg14del 1/946 12 ARVC TF+; 39 DCM The PLN R14del founder mutation is present in a substantial number of Dutch patients clinically diagnosed with DCM (15%) or ARVC (12%). R14del+ patients diagnosed showed an arrhythmogenic phenotype, and SCD at young age can be the presenting symptom. Mutation details