title: Clinical features of hypertrophic cardiomyopathy caused by an Arg278Cys missense mutation in the cardiac troponin T gene.
abstract: To further examine the genetic and clinical features of hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T (cTnT) gene, we screened 143 probands from our hypertrophic cardiomyopathy population for mutations in this gene. We report that the Arg278Cys missense mutation in the cTnT gene had a different clinical presentation in 2 different families and was associated with a clinical profile that deviates from what is currently expected for cTnT gene mutations.
authors.affiliation: Department of Cardiology, Hippokration Hospital, University of Athens, Athens, Greece. koszam@hol.gr
authors.forename: Artemisia
authors.initials: A
authors.lastname: Theopistou
authors.forename: Aristidis
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Antigoni
authors.initials: A
authors.lastname: Miliou
authors.forename: Angelos
authors.initials: A
authors.lastname: Rigopoulos
authors.forename: Pavlos
authors.initials: P
authors.lastname: Toutouzas
authors.forename: Christodoulos
authors.initials: C
authors.lastname: Stefanadis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001120:Arginine / Q000235:genetics; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D020107:Troponin T / Q000235:genetics*
chemical_list: D020107:Troponin T; D001120:Arginine; D003545:Cysteine