Article details

Taylor et al. Circulation 2011;124:876-85.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
TTN37T2896Ic.8687C>Tp.Thr2896Ile 0/400 ARVC, TFC+6Complete segregation, including 5th degree relatives Mutation details
TTN97Y8031Cc.24092A>Gp.Tyr8031Cys 0/400 ARVC, TFC+0  Mutation details
TTN108H8848Yc.26542C>Tp.His8848Tyr 0/400 ARVC, TFC+0  Mutation details
TTN298I16949Tc.50846T>Cp.Ile16949Thr 0/400 ARVC, TFC+1Parent who carried mutation had normal evaluation at age 66 Mutation details
TTN305A18579Tc.55735G>Ap.Ala18579Thr 0/400 ARVC, TFC+0Compound heterozygote: TTN M33291T Mutation details
TTN313A19309Sc.57925G>Tp.Ala19309Ser 0/400 ARVC, TFC+0  Mutation details
TTN357P30847Lc.92540C>Tp.Pro30847Leu 0/400 ARVC, TFC+0  Mutation details
TTN362M33291Tc.99872T>Cp.Met33291Thr 0/400 ARVC, TFC+0Compound heterozygote: TTN A18579T Mutation details