Article details

Sen-Chowdhry et al. Journal of the American College of Cardiology 2008;52:2175-87.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG212C591Xc.1773_1774delTGp.Cys591X 0/0 LDAC0Proposed criteria for incorporation in new TFC Mutation details
DSP7Splicec.939+1G>Ar.spl? 0/400 LDAC0Proposed criteria for incorporation in new TFC Mutation details
DSP11S442Fc.1325C>Tp.Ser442Phe 0/400 LDAC0Proposed criteria for incorporation in new TFC Mutation details
DSP12S507Fc.1520C>Tp.Ser507Phe 0/400 LDAC1Proposed criteria for incorporation in new TFC Mutation details
DSP14T586fsX594c.1755_1756insAp.His586ThrfsX9 0/0 LDAC3Proposed criteria for incorporation in new TFC Mutation details
DSP22S1015fsX1017c.3045delGp.Arg1015SerfsX3 0/400 LDAC6Highly penetrant, cosegregated with a clinical phenotype in 6 affected individuals, whereas all those evaluated without the mutation had no clinical expression of disease Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/400 LDAC0Proposed criteria for incorporation in new TFC Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 LDAC0Proposed criteria for incorporation in new TFC Mutation details