Article details

Ostrowska Dahlgren et al. Journal of Interventional Cardiac Electrophysiology 2012;34:11-18.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0 TFC+3also carries L506P in PKP2 Mutation details
PKP27L506Pc.1517T>Cp.Lys506Pro 0/854 TFC+3also carries L366P in PKP2; previously reported by B-Lundqvist et al in Clinical Cardiology.1987;10:277-283. Mutation details
PKP27T526Ac.1576A>Gp.Thr526Ala 0/854   Asymptomatic,also carries L506P and L366P in PKP2. Proposed as modyfing factor preventing the development of the disease. Mutation details