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Article

A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.

Congenital heart disease - 1 Jan 2000

Karam Simon, Raboisson Marie-Josée, Ducreux Corinne, Chalabreysse Lara, Millat Gilles, Bozio André, Bouvagnet Patrice

Abstract excerpt

Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a very short evolution to death. Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18380764
DOI: 10.1111/j.1747-0803.2008.00165.x

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.PMID 18380764Read ↗

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