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Article

Microarray-based mutation detection in the dystrophin gene.

Human mutation - 1 Sept 2008

Hegde Madhuri R, Chin Ephrem L H, Mulle Jennifer G, Okou David T, Warren Stephen T, Zwick Michael E

Abstract excerpt

Duchenne and Becker muscular dystrophies (DMD and BMD) are X-linked recessive neuromuscular disorders caused by mutations in the dystrophin gene affecting approximately 1 in 3,500 males. The human dystrophin gene spans>2,200 kb, or roughly 0.1% of the genome, and is composed of 79 exons. The mutational spectrum of disease-causing alleles, including exonic copy number variations (CNVs), is complex. Deletions...

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

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Share to Muscular Dystrophy, Duchenne

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Source

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Identifiers

PMID: 18663755
DOI: 10.1002/humu.20831
PMCID: PMC2574813

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.

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