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Article

First description of germline mosaicism in familial hypertrophic cardiomyopathy.

Journal of medical genetics - 1 Feb 2000

Forissier J F, Richard P, Briault S, Ledeuil C, Dubourg O, Charbonnier B, Carrier L, Moraine C, Bonne G, Komajda M, Schwartz K, Hainque B

Abstract excerpt

Familial hypertrophic cardiomyopathy is a genetically and phenotypically heterogeneous disease caused by mutations in seven sarcomeric protein genes. It is known to be transmitted as an autosomal dominant trait with rare de novo mutations.A French family in which two members are affected by hypertrophic cardiomyopathy was clinically screened with electrocardiography and echocardiography. Genetic analyses were...

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Topics

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Share to Cardiomyopathy, Hypertrophic
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haplotypes

Share to Microsatellite Repeats

Share to Mosaicism

Share to Myosin Heavy Chains

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Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 10662815
DOI: 10.1136/jmg.37.2.132
PMCID: PMC1734529

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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