Article
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.
Arquivos brasileiros de cardiologia - 1 Sept 2016
Mattos Beatriz Piva E, Scolari Fernando Luís, Torres Marco Antonio Rodrigues, Simon Laura, Freitas Valéria Centeno de, Giugliani Roberto, Matte Úrsula
Abstract excerpt
BACKGROUND:: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. OBJECTIVE:: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2...
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