Article details

Gerull et al. Circulation Cardiovascular Genetics 2013;6:327-336.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC211Q554Xc.1660C>Tp.Gln554X 0/0 TFC+3Homozygous mutation; leads to early onset biventricular arrhythmogenic cardiomyopathy. The truncated protein remains partially stable and localized at the intercalated discs. Mutation details