Identification of a mutation in the β cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy

S. Al-Mahdawi*, S. Chamberlain, J. Cleland, P. Nihoyannopoulos, D. Gilligan, J. French, L. Choudhury, R. Williamson, C. Oakley

*Corresponding author for this work

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

Objective - To investigate the molecular genetic basis of the cause of disease in a family with hypertrophic cardiomyopathy. Background - Mutation within the β cardiac myosin heavy chain gene has been shown to be the pathogenetic mechanism underlying the disease in several families, though clear evidence of heterogeneity has been reported. Patients - A family with a history of hypertrophic cardiomyopathy. Results and conclusion - This paper reports a mutation at amino acid position 908 within exon 23 of the β cardiac myosin heavy chain gene, resulting in a conversion of a leucine to valine. This base substitution was identified in an individual with a confirmed family history but with equivocal symptoms of the disease. Inheritance of the mutation by his symptom free juvenile offspring demonstrates the application of the technique to presymptomatic diagnosis.

Original languageEnglish (US)
Pages (from-to)136-141
Number of pages6
JournalBritish Heart Journal
Volume69
Issue number2
StatePublished - Jan 1 1993

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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