Article details

Fidler et al. Journal of Cellular and Molecular Medicine 2009;13:4219-28.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP21Q62Kc.184C>A p.Gln62Lys 0/0   Functional data: abnormal connexin43 organization at the intercalated disk; possible gap junction abnormalities through impairment of crucial binding events Mutation details
PKP25D460fsX464c.1378+1G>Ap.His461SerfsX4 0/0   Functional data: decrease in connexin43 quantity, normal N-cadherin and PKP2 positioning and expression Mutation details
PKP28L586fsX658c.1755_1756ins8p.Val587ThrfsX72 0/0   Functional data: increased ectopic connexin43 expression, decreased N-cadherin and connexin43 colocalization Mutation details
PKP29R635Wc.1903C>Tp.Arg635Trp 0/0   Functional data: increased ectopic connexin43 expression, decreased N-cadherin and connexin43 colocalization Mutation details