title: Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.
abstract: The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in 150 consecutive patients with hypertrophic cardiomyopathy from the well-defined geographic region of Tuscany. Troponin T mutations had a low prevalence (3.3%; including a newly described Phe110Leu mutation) and were associated with heterogeneous clinical expression and outcome.
authors.affiliation: Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Torricelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Girolami
authors.forename: Iacopo
authors.initials: I
authors.lastname: Olivotto
authors.forename: Ilaria
authors.initials: I
authors.lastname: Passerini
authors.forename: Sabrina
authors.initials: S
authors.lastname: Frusconi
authors.forename: Daniela
authors.initials: D
authors.lastname: Vargiu
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Franco
authors.initials: F
authors.lastname: Cecchi
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011110:Polymorphism, Genetic; D015995:Prevalence; D020107:Troponin T / Q000235:genetics*
chemical_list: D020107:Troponin T