Article
Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Biochemical and biophysical research communications - 19 Sept 2003
Nanni Luisa, Pieroni Maurizio, Chimenti Cristina, Simionati Barbara, Zimbello Rosanna, Maseri Attilio, Frustaci Andrea, Lanfranchi Gerolamo
Abstract excerpt
About 10% of cases of hypertrophic cardiomyopathy (HCM) evolve into dilated cardiomyopathy (DCM) with unknown causes. We studied 11 unrelated patients (pts) with HCM who progressed to DCM (group A) and 11 who showed "typical" HCM (group B). Mutational analysis of the beta-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and cardiac troponin T (TNNT2) genes demonstrated eight mutations affecting MYH7...
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