Article details

Groeneweg et al. Heart Rhythm 2013;10:548-59.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 6 TFC+13In this family, there was no evidence of disease-causing contribution of the PKP2 S140F variant. The PLN R14del mutation cosegregates with arrhythmogenic cardiomyopathy and with electrocardiographic and structural LV abnormalities. Mutation details
PLN2R14delc.40_42delAGAp.Arg14del 0/0 6 TFC+13The PLN R14del mutation cosegregates with arrhythmogenic cardiomyopathy and with electrocardiographic and structural LV abnormalities. In this family, there was no evidence of disease-causing contribution of the PKP2 S140F variant. Mutation details