Article details

Watkins et al. Heart Rhythm 2009;6:Suppl; 10-7.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0   Found at frequency >1% in general population Mutation details
PKP24Q378Xc.1132C>Tp.Gln378X 0/482 TFC+   Mutation details
PKP24R388Wc.1162C>Tp.Arg388Trp 0/482 TFC+ Founder mutation, found in 4 probands Mutation details
PKP26G489Rc.1465G>Ap.Gly489Arg 0/482 TFC+   Mutation details
PKP210Intronicc.2145+45G>A- 0/0   Found at frequency >1% in general population, reported as IVS10+44G>A Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/0 TFC+4Compound heterozygote: PKP2 R388W in two family members with severe phenotype Mutation details
PKP211Intronicc.2299+7C>T- 0/0   Found at frequency >1% in general population Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+   Mutation details
PKP213L847Pc.2540T>Cp.Leu847Pro 0/482 TFC+   Mutation details
PKP214Intronicc.2578-69G>A- 0/0   Found at frequency >1% in general population; reported as IVS13+83G>A Mutation details