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Article

Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2026

Dunn Diane M, Weiss Robert B

Abstract excerpt

The multiplex ligation-dependent probe amplification (MLPA) assay is designed to simultaneously screen all 79 DMD gene exons for copy number variation in Duchenne and Becker muscular dystrophy (DMD/BMD) patients. Large deletions or duplications are found as mutations in >65% of DMD/BMD patients, making the MLPA assay a leading genetic diagnostic tool for patients and their families. This assay requires only...

Topics

Dystrophin
Humans
Multiplex Polymerase Chain Reaction
Muscular Dystrophy, Duchenne
DNA Copy Number Variations
Mutation
Exons

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 41028305
DOI: 10.1007/978-1-0716-4811-7_1

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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