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Article

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.

Nature - 1 Jan 2000

den Dunnen J T, Bakker E, Breteler E G, Pearson P L, van Ommen G J

Abstract excerpt

Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting about 1 in 3,500 males. It is allelic with the milder Becker muscular dystrophy. The biochemical basis for both diseases is unknown and no effective treatment is available. Long-range physical mapping has shown that the DMD gene, localized in Xp21, is extremely large, exceeding 2 million base pairs. Until now, carrier detection and prenatal...

Topics

Alleles
Chromosome Aberrations
Chromosome Disorders
DNA
Electrophoresis
Female
Humans
Male
Muscular Dystrophies
Mutation
Pedigree
Polymorphism, Restriction Fragment Length

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 2889148
DOI: 10.1038/329640a0

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2889148-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels.PMID 2889148Read ↗

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