Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany |
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| Authors: | Torricelli Francesca Girolami Francesca Olivotto Iacopo Passerini Ilaria Frusconi Sabrina Vargiu Daniela Richard Pascale Cecchi Franco |
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| Affiliation: | Cytogenetics and Genetics Unit, Azienda Ospedaliera Careggi, Florence, Italy. |
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| 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. |
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