Article details

Garcia-Pavia et al. Heart 2011;97:1744-52.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23S89Lc.266C>Tp.Ser89L 0/400 DCM HTx   Mutation details
DSC27V303Mc.907G>Ap.Val303Met 0/400 DCM HTx Also carried PKP2 V587I mutation Mutation details
DSC214L732Vc.2194T>Gp.Leu732Val 0/400 DCM HTx Also carried V392I mutation Mutation details
DSG25M162fsX171c.484delGp.Asp162MetfsX10 0/400 DCM HTx   Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/400 DCM HTx Mutation co-segregated with DCM; Also carried DSP E1833V variant Mutation details
DSG29V392Ic.1174G>A p.Val392Ile 0/400 DCM HTx Also carried DSC2 L732V variant Mutation details
DSG215T1099Ac.3295A>Gp.Thr1099Ala 0/400 DCM HTx   Mutation details
DSP19R907Hc.2720G>Ap.Arg907His 0/400 DCM HTx Also carried DSP R1838H mutation Mutation details
DSP24E1833Vc.5498A>Tp.Glu1833Val 0/400 DCM HTx Also carried DSG2 T335A mutation Mutation details
DSP24R1838Hc.5513G>Ap.Arg1838His 0/400 DCM HTx Mutation co-segregated with DCM; Also carried DSP R907H variant Mutation details
DSP24A2294Gc.6881C>Gp.Ala2294Gly 0/400 DCM HTx, N=2   Mutation details
DSP24A2765fsX2787c.8290_8291insTGCTp.Gln2765LeufsX23 0/400 DCM HTx Mutation co-segregated with DCM Mutation details
DSP24S2821Lc.8462C>Tp.Ser2821Leu 0/400 DCM HTx   Mutation details
JUP2T19Ic.56C>Tp.Thr19Ile 0/400 DCM HTx Mutation co-segregated with DCM Mutation details
JUP4R176Wc.526C>Tp.Arg176Trp 0/400 DCM HTx   Mutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/400 DCM HTx   Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/400 DCM HTx   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/400 DCM HTx; N=3 One patient also carried DSC2 V303M variant Mutation details