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Article

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

British heart journal - 1 Feb 1993

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

Abstract excerpt

OBJECTIVE: To investigate the molecular genetic basis of the cause of disease in a family with hypertrophic cardiomyopathy. BACKGROUND: Mutation within the beta 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...

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Identifiers

PMID: 8435239
DOI: 10.1136/hrt.69.2.136
PMCID: PMC1024940

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Related research

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Research trail→

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Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.PMID 8435239Read ↗

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.Semantic proximity Read ↗

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.Semantic proximity Read ↗

Identification of an Arg403Gln beta myosin heavy chain gene mutation in a Portuguese family with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A missense mutation in the beta myosin heavy chain gene is a predictor of premature sudden death in patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.Semantic proximity Read ↗

A previously undescribed de novo insertion-deletion mutation in the beta myosin heavy chain gene in a kindred with familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.Semantic proximity Read ↗

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