Article details

Gandjbakhch et al. Heart 2011;97:844-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP24E2343Lc.7027G>Ap.Glu2343Lys 0/600 TFC+1See Fressart et al. Found in one of the two families with the PKP2 R490W variant Mutation details
PKP26R490Wc.1468C>Tp.Arg490Trp 0/940 TFC+; N=21See Fressart et al. Results strongly suggest that R490W and other variants located in PKP2 exon 6, specific for PKP2b, are rare polymorphisms and should not be considered as disease-causing mutations. Mutation details