Article details

Zhang et al. Circulation Journal 2012;6:189-94.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP21D26Nc.76G>A p.Asp26Asn 0/192 N=20One patient carried PKP2 R651X mutation Mutation details
PKP21L64fsX85c.190dupCp.Leu64ProfsX22 0/192 Biventricular ARVC0Died at age 15 Mutation details
PKP23T217fsX261c.648_651delATACp.Tyr217ThrfsX45 0/192 Sudden death, autopsy negative0Died at age 16 Mutation details
PKP23G269Rc.805G>Ap.Gly269Arg 0/192 Biventricular ARVC0Died at age 49 Mutation details
PKP23F339Sc.1016T>Cp.Phe339Ser 0/192 Sudden death, autopsy negative0Died at age 37 Mutation details
PKP27I531Sc.1592T>Gp.Ile531Ser 0/192 Sudden death, autopsy negative0Died at age 27 Mutation details
PKP27E540Kc.1618G>Ap.Glu540Lys 0/192 Sudden death, autopsy negative0Died at age 22 Mutation details
PKP29S615Tc.1843T>Ap.Ser615Thr 0/192 Sudden death, autopsy negative0Died at age 20 Mutation details
PKP29N642delc.1925_1927delACAp.Asn642del 0/192 Left ventricular "ARVC"0Died at age 52 Mutation details
PKP29R651Xc.1951C>Tp.Arg651X 0/192 Biventricular ARVC0Died at age 46 Mutation details
PKP210P665Sc.1993C>Tp.Pro665Ser 0/192 Sudden death, autopsy negative0Died at age 45 Mutation details
PKP210S688Pc.2062T>Cp.Ser688Pro 0/192 Right ventricular ARVC0Died at age 29 Mutation details