Article details

La Gerche et al. Heart 2010;96:1268-74.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP20A955Tc.2863G>Ap.Ala955Thr 0/0 Athlete with RV arrhythmias   Mutation details
DSP23L1288Rc.3863A>Gp.Lys1288Arg 0/0 Athlete with RV arrhythmias   Mutation details
JUP3A143Tc.427G>Ap.Ala143Thr 0/0 Athlete with RV arrhythmias 2 unaffected family members carried the same mutation Mutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/0 Athlete with RV arrhythmias   Mutation details
PKP23S169Gc.505A>Gp.Ser169Gly 0/0 Athlete with RV arrhythmias   Mutation details
PKP25D460Nc.1378G>Ap.Asp460Asn 0/0 Athlete with RV arrhythmias   Mutation details
PKP27T550fsX559c.1648_1657delp.Leu550ThrfsX10 0/0 Athlete with RV arrhythmias   Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 Athlete with RV arrhythmias, N=2   Mutation details