[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].

Article Details

Citation

Mora R, Merino JL, Peinado R, Olias F, Garcia-Guereta L, del Cerro MJ, Tarin MN, Molano J

[Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene].

Rev Esp Cardiol. 2006 Aug;59(8):846-9.

PubMed ID
16938236 [ View in PubMed
]
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.

DrugBank Data that Cites this Article

Polypeptides
NameUniProt ID
Myosin-7P12883Details