Article details

Rajkumar et al. BMC medical genetics 2012;13:21.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC29D412fs*413c.1234_1235insAp.Thr412Asnfs*2 0/300 TFC+1  Mutation details
DSG23I70Vc.208A>Gp.Ile70Val 0/300 TFC+ Patient also carries PKP2 Q133* Mutation details
PKP23Q133Xc.397C>Tp.Gln133X 0/300 TFC+ Patient also carries DSG2 I70V Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/300 TFC+   Mutation details
PKP213R847fs*c.2540delTp.Leu847Argfs*83 0/300 TFC+/-   Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/0   TMEM43 S358L exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins. The pathogenetic role of TMEM43 mutations in ARVC remains uncertain. Mutation details