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Article

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

American journal of human genetics - 1 Apr 1990

Hu X Y, Ray P N, Murphy E G, Thompson M W, Worton R G

Abstract excerpt

Partial gene deletion is the major cause of mutation leading to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Partial gene duplication has also been recognized in a few cases. We have conducted a survey for duplication in 72 unrelated nondeletion patients, analyzed by Southern blot hybridization with clones representing the entire DMD cDNA. With careful quantitative analysis of...

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Identifiers

PMID: 2316519
PMCID: PMC1683676

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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Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation.PMID 2316519Read ↗

Partial gene duplication as a cause of human disease.Semantic proximity Read ↗

Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.Semantic proximity Read ↗

Duchenne muscular dystrophy: gene and gene product; mechanism of mutation in the gene.Semantic proximity Read ↗

Reclassification of DMD Duplications as Benign: Recommendations for Cautious Interpretation of Variants Identified in Prenatal ScreeningSemantic proximity Read ↗

Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies.Semantic proximity Read ↗

Deletions, duplications and novel restriction fragment length polymorphism in Duchenne and Becker muscular dystrophies.Semantic proximity Read ↗

Comprehensive analysis of genomic complexity in the 5’ end coding region of the DMD gene in patients of exons 1-2 duplications based on long-read sequencingSemantic proximity Read ↗

Analysis of complex structural variants in the DMD gene in one family.Semantic proximity Read ↗

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

Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.Semantic proximity Read ↗

Enormous dystrophin in a patient with Becker muscular dystrophy.Semantic proximity Read ↗

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

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