title: [Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].
abstract: The aim of this study was to identify mutations in the cardiac heavy-chain beta-myosin gene (MYH7b) in a group of Spanish patients with hypertrophic cardiomyopathy. The study included 36 families with at least one member who had hypertrophic cardiomyopathy. DNA from exons 3 to 24 of the MYH7b gene was sequenced. Two mutations were identified: Arg858Cys and Met515Val. They occurred in two families, one of which was of Moroccan origin. This corresponds to a MYH7b gene mutation frequency of less than 5%. In contrast to findings in other Caucasian populations, MYH7b gene mutation occurred infrequently in this group of Spanish families with hypertrophic cardiomyopathy.
authors.affiliation: Unidad de Genética Molecular, Servicio de Bioquímica, Hospital Universitario La Paz, Madrid, España.
authors.forename: Roberto
authors.initials: R
authors.lastname: Mora
authors.forename: José L
authors.initials: JL
authors.lastname: Merino
authors.forename: Rafael
authors.initials: R
authors.lastname: Peinado
authors.forename: Fernando
authors.initials: F
authors.lastname: Olias
authors.forename: Luis
authors.initials: L
authors.lastname: García-Guereta
authors.forename: María J
authors.initials: MJ
authors.lastname: del Cerro
authors.forename: María N
authors.initials: MN
authors.lastname: Tarín
authors.forename: Jesús
authors.initials: J
authors.lastname: Molano
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D024722:Cardiac Myosins / Q000235:genetics*; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree
chemical_list: C501641:MYH7 protein, human; D024722:Cardiac Myosins; D018995:Myosin Heavy Chains