Article
[Direct detection of malignant mutations in patients with hypertrophic cardiomyopathy].
Revista espanola de cardiologia - 1 Oct 2003
García-Castro Mónica, Reguero Julián R, Batalla Alberto, Catalán Felicitas, Mayordomo Juan, Coto Eliecer
Abstract excerpt
We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had familial antecedents of hypertrophic myocardiopathy or sudden death. Mutations were identified with polymerase chain reaction followed by restriction enzyme digestion and...
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