Article details

van der Zwaag et al. Netherlands Heart Journal 2013;21:286-93.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PLN2R14delc.40_42delAGAp.Arg14del 0/0 101 index pts See van der Zwaag et al. 2012. The R14del mutation is the most frequently identified mutation in Dutch cardiomyopathy patients. The mutation that arose 575-825 years ago is likely to have originated from the eastern part of the province of Friesland and is highly prevalent in the general population in the northern part of the Netherlands. Mutation details