Article details

van der Smagt et al. Cardiology 2012;123:181-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP212Splicec.2489+4A>Cr.spl 0/300 TFC+; 4 probands9Founder mutation, RT-PCR demonstrated the presence of aberrant messenger RNA. Clinical manifestations ranged from severe disease to non-penetrance in elderly mutation carriers. Mutation details