Article details

Joshi-Mukherjee et al. Heart Rhythm 2008;5:1715-23.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0   Functional data: reduced connexin43 abundance, correlated with loss of HSP90 expression, no connexin43 and desmoplakin interaction Mutation details
PKP23C179fsX190c.534_535insCTp.His179LeufsX12 0/0   Functional data: failure to preferentially localize to cell-cell apposition sites; preserved connexin43 and desmoplakin interaction Mutation details