Article details

Perrin et al. Journal of the Amercian College of Cardiology 2013;62:1772-79.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23V56Mc.166G>Ap.Val56Met 0/0 Modified TFC-, age 59 asymptomatic Mutation details
DSG215S1021LfsX1036c.3061_3062delAGp.S1021LfsX16 0/0 Modified TFC-, age 28 Digenic: also carries L527P in PKP2, asymptomatic. Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 Modified TFC-, age 17 and 14 asymptomatic carriers Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 Modified TFC-, age 21 asymptomatic carrier Mutation details
PKP25Splicec.1378+1G>Cr.spl? 0/0 Modified TFC-, age 40 asymptomatic carrier. homozygous. Mutation details
PKP27L527Pc.1580T>Cp.Leu527Pro 0/0 Modified TFC-, age 28 Digenic: also carries S1021LfsX1036 in DSG2, asymptomatic carrier. Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/0 Modified TFC-, age 18 asymptomatic Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 Modified TFC-, age 55 and 20 asymptomatic carriers Mutation details
PKP29Q638Xc.1912C>Tp.Gln638X 0/0 Modified TFC-: age 42, 67, 24, 17, 59, 59; borderline: age 53, 21 Asymptomatic mutation carriers Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+, age 66 Asymptomatic carrier Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 Modified TFC-: age 56, 73, 24. Borderline: age 31 Asymptomatic Mutation details
PKP211R739fsX741c.2216_2217delATp.His739ArgfsX3 0/0 TFC+ age 48, borderline age 37, possible age 43 asymptomatic carriers Mutation details
PKP212R811Sc.2431C>Ap.Arg811Ser 0/0 Modified TFC-, age 69. Asymptomatic. Mutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/0 Modified TFC-, age 21 asymptomatic carrier Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/0 TFC+, age 48, asymptomatic   Mutation details