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Article

Germline mosaicism and Duchenne muscular dystrophy mutations.

Nature - 1 Jan 2000

Bakker E, Van Broeckhoven C, Bonten E J, van de Vooren M J, Veenema H, Van Hul W, Van Ommen G J, Vandenberghe A, Pearson P L

Abstract excerpt

Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease with an incidence of approximately 1 in 3,500 newborn boys. The DMD locus has a high mutation frequency: one third of the cases is thought to result from a new mutation. Linkage studies using probes to detect restriction fragment length polymorphisms and DNA deletion studies have greatly improved DMD carrier detection and prenatal...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 2889144
DOI: 10.1038/329554a0

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Germline mosaicism and Duchenne muscular dystrophy mutations.PMID 2889144Read ↗

Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.Semantic proximity Read ↗

[Prenatal molecular diagnosis of a DMD carrier female fetus by chorionic villus sampling and linkage analysis].Semantic proximity Read ↗

Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.Semantic proximity Read ↗

Carrier detection and prenatal molecular diagnosis in a Duchenne muscular dystrophy family without any affected relative available.Semantic proximity Read ↗

Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females.Semantic proximity Read ↗

Genotype-phenotype correlation and germline mosaicism in DMD/BMD patients with deletions of the dystrophin gene.Semantic proximity Read ↗

Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.Semantic proximity Read ↗

Long-range restriction map around the Duchenne muscular dystrophy gene.Semantic proximity Read ↗

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