Article details

te Riele et al. JACC Cardiovascular Imaging 2012;8:849-51.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP1Q51Xc.151C>Tp.Gln51X 0/0 TFC+? MRI showed moderate LV dilation and LV function was diminished. RV size and function was normal. Mutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+? MRI showed RV dilation with multiple RV free wall microaneurysms and fatty infiltration in the LV apicolateral region Mutation details