Brief report
Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany

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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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This study was supported by the Italian Ministry for Scientific and Technologic Research (MURST- COFIN 2002), the Ente Cassa di Risparmio di Firenze, Florence, Italy, and the Fondazione Monte dei Paschi di Siena, Siena, Italy.

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