Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.
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.
Torricelli
Francesca
F
Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence, Italy.
Girolami
Francesca
F
Olivotto
Iacopo
I
Passerini
Ilaria
I
Frusconi
Sabrina
S
Vargiu
Daniela
D
Richard
Pascale
P
Cecchi
Franco
F
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*
D020107:Troponin T