Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

Abstract Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutatio...

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Bibliographic Details
Main Authors: Julianny Freitas Rafael, Fernando Eugênio dos Santos Cruz Filho, Antônio Carlos Campos de Carvalho, Ilan Gottlieb, José Guilherme Cazelli, Ana Paula Siciliano, Glauber Monteiro Dias
Format: Article
Language:English
Published: Sociedade Brasileira de Cardiologia (SBC)
Series:Arquivos Brasileiros de Cardiologia
Subjects:
Cardiomiopatia Hipertrófica
Genes Sarcoméricos
Mutação Composta
MYBPC3
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000400354&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2017000400354&lng=en&tlng=en

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