Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.

doi:10.1161/01.res.71.6.1404

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Article

Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation.

Circulation research - 1 Dec 1992

Vybiral T, Deitiker P R, Roberts R, Epstein H F

Abstract excerpt

The sarcomeric proteins and organization of cardiac myofibrils appeared intact in multiple unrelated patients with hypertrophic cardiomyopathy. In two subjects demonstrating the missense mutation at position 403 (Arg to Gln) in the beta-myosin heavy chain gene, total myosin and immunoreactive beta-myosin heavy chain levels were similar to those found in other patients with hypertrophic cardiomyopathy and various...

Topics

Adolescent
Adult
Aged
Cardiomyopathy, Hypertrophic
Child
Female
Fluorescent Antibody Technique
Genes
Humans
Immunoblotting
Male
Microscopy, Polarization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Myocardial Contraction

Myocardium

Myofibrils

Myosins

Source

Open in PubMed

Identifiers

PMID: 1423936
DOI: 10.1161/01.res.71.6.1404

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1423936-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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