[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: Roberto Mora, José L Merino, Rafael Peinado, Fernando Olias, Luis García-Guereta, María J del Cerro, María N Tarín, Jesús Molano
• Journal: Revista espanola de cardiologia (Rev Esp Cardiol) Vol. 59 Issue 8 Pg. 846-9 (Aug 2006) ISSN: 0300-8932 [Print] Spain
• Vernacular Title: Miocardiopatía hipertrófica: baja frecuencia de mutaciones en el gen de la cadena pesada de la betamiosina cardiaca.
• PMID: 16938236 (Publication Type: English Abstract, Journal Article)

Chemical References

• MYH7 protein, human
• Cardiac Myosins
• Myosin Heavy Chains

Topics

• Adolescent
• Adult
• Aged
• Cardiac Myosins (genetics)
• Cardiomyopathy, Hypertrophic (genetics)
• Child
• Child, Preschool
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Myosin Heavy Chains (genetics)
• Pedigree