Article details

Larsen et al. Forensic Science International 2012;219:33-8.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
LMNA11R644Cc.1930C>Tp.Arg644Cys 0/0 ARVC; SCD at age 37 Cardiac enlargement, structural derangement, hypertrophy; interstitial fibrosis, foci of interstitial lymphocytes and fibrofatty infiltrations of the myocardium Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 ARVC; SCD at age 19 Cardiac enlargement, interstitial fibrosis and fibrofatty infiltrations of the myocardium Mutation details