Article
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
Journal of the American College of Cardiology - 21 Dec 2004
Mogensen Jens, Murphy Ross T, Kubo Toru, Bahl Ajay, Moon James C, Klausen Ib C, Elliott Perry M, McKenna William J
Abstract excerpt
OBJECTIVES: The aim of this study was to evaluate the potential utility of genetic diagnosis in clinical management of families with hypertrophic cardiomyopathy (HCM) caused by mutations in the gene for cardiac troponin I (TNNI3). BACKGROUND: Knowledge about the clinical disease expression of sarcomeric gene mutations in HCM has predominantly been obtained by investigations of single individuals (probands) or...
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