Article details

Gehmlich et al. Heart Rhythm 2011;8:711-8.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC216Q851fsX855c.2553delAp.Asp852ThrfsX4 0/900 TFC-1Deficient in binding plakoglobin; ability to directly interact with connexin43 was abolished. Patient carries also the DSG2 A517V mutation. Mutation details
DSG211A517Vc.1550C>Tp.Ala517Val 0/900 TFC-1Patient carries also the DSC2 Q851fsX855 mutation. DSG2 A517V showed normal binding properties. Mutation details