Article details

Garcia et al. Newsletter. ESC Working Group 2010;28:9-12.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG24I85Nc.254T>Ap.Ile85Asn 0/0 TFC-1Positive family history for DCM. PAPVR believed to lead right sided dilatation. I85N does not segregate with familial cardiomyopathy Mutation details
DSP24A2294Gc.6881C>Gp.Ala2294Gly 0/0 TFC-1Positive family history for DCM. Partial anomalous pulmonary venous return believed to lead right sided dilatation. DSP A2294G does not segregate with familial cardiomyopathy Mutation details
PKP24L366Pc.1097T>Cp.Leu366Pro 0/0 TFC-1Positive family history for DCM. PAPVR believed to lead right sided dilatation. Mutation details
PKP212Intronicc.2489+14insC- 0/0 TFC-1Positive family history for DCM. PAPVR believed to lead right sided dilatation. Mutation details