Article details

Lorenzon et al. American Journal of Cardiology 2013;111:400-405.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES2A213Vc.638C>Tp.Ala213Val 0/0 TFC+ Pathogenicity excluded due to presence in controls at frequency of 1.2% Mutation details
DES3intronicc.736-11A>G- 0/600 TFC+ not associated with ARVC Mutation details
DES3K241Ec.721A>Gp.Lys241Glu 0/600 TFC+ Also carries R816fsX825 in PKP2. See Rampazzo et al., 2008 Mutation details