Article details

Bauce et al. Heart Rhythm 2010;7:22-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/500 TFC+8Digenic: PKP2 S50fsX110 Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/500 TFC+4Compound heterozygote: DSP R2541K Mutation details
DSP23L1654Pc.4961T>Cp.Leu1654Pro 0/500 TFC+4Digenic and compound heterozygote: PKP2 Q62K and PKP2 Q707X Mutation details
DSP24R2541Kc.7622G>Ap.Arg2541Lys 0/500 TFC+4Compound heterozygote: DSP V30M Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+8Digenic: DSG2 V392I Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/400 TFC+4Digenic and compound heterozygote: DSP L1654P and PKP2 Q707X Mutation details
PKP210Q707Xc.2119C>Tp.Gln707X 0/400 TFC+4Digenic and compound heterozygote: DSP L1654P and PKP2 Q62K Mutation details