Article details

Nakajima et al. Circulation Journal 2012;76:737-43.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG26S194Lc.581C>Tp.Ser194Leu 0/160 TFC+ Patient also carried DSG2 R292C in trans Mutation details
DSG28R292Cc.874C>Tp.Arg292Cys 0/160 TFC+, N=2 One patient also carried DSG2 S194L in trans; another also carried PKP2 R577DfsX5 Mutation details
DSG214R773Kc.2318G>Ap.Arg773Lys 0/0   Present in 6/8 Japanese ARVC patients; not associated with ARVC Mutation details
DSP5'UTRUTRc.1dupA- 0/0   Present in 2/8 Japanese ARVC patients; not associated with ARVC Mutation details
DSP12Y494Fc.1481A>Tp.Tyr494Phe 0/0   Present in 3/8 Japanese ARVC patients; not associated with ARVC Mutation details
DSP23Y1512Cc.4535A>Gp.Tyr1512Cys 0/0   Present in 4/8 Japanese ARVC patients; not associated with ARVC Mutation details
JUP14M697Lc.2089A>Tp.Met697Leu 0/0   Present in 4/8 Japanese ARVC patients; not associated with ARVC Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0   Present in 2/8 Japanese ARVC patients; not associated with ARVC Mutation details
PKP28M565Rc.1694T>Gp.Met565Arg 0/160 TFC+ Patient also carried PKP2 D812N (in trans) Mutation details
PKP28R577DfsX5c.1728_1729insGATGp.Arg577AspfsX5 0/160 TFC+ Patient also carried DSG2 R292C Mutation details
PKP212D812Nc.2434G>Ap.Asp812Asn 0/160 TFC+, N=2 One patient also carried PKP2 2489+1G>A (in trans); another also carried PKP2 M565R (in trans) Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/160 TFC+ Patient also carried PKP2 D812N (in trans) Mutation details