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Article

The first exon duplication mouse model of Duchenne muscular dystrophy: A tool for therapeutic development.

Neuromuscular disorders : NMD - 1 Nov 2015

Vulin Adeline, Wein Nicolas, Simmons Tabatha R, Rutherford Andrea M, Findlay Andrew R, Yurkoski Jacqueline A, Kaminoh Yuuki, Flanigan Kevin M

Abstract excerpt

Exon duplication mutations account for up to 11% of all cases of Duchenne muscular dystrophy (DMD), and a duplication of exon 2 is the most common duplication in patients. For use as a platform for testing of duplication-specific therapies, we developed a mouse model that carries a Dmd exon 2 duplication. By using homologous recombination we duplicated exon 2 within intron 2 at a location consistent with a human...

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

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Source

Identifiers

PMID: 26365037
DOI: 10.1016/j.nmd.2015.08.005

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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