Article details

Brodehl et al. Circulation Cardiovascular Genetics 2013;6:615-23.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES1A120Dc.359C>Ap.Ala120Asp 0/788 AV cond disease13DCM/SCD in family members; several functional experiments indicated a pathogenic effect. Proband also carries PKP2 T526M Mutation details
DES5H326Rc.977A>Gp.His326Arg 0/788 Borderline ARVC4Several functional experiments did not demonstrate any differences from wild type Mutation details
PKP27T526Mc.1577C>Tp.Thr526Met 0/0   Patient carries pathogenic DES A120D mutation Mutation details