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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...
Duchenne muscular dystrophy (DMD) is associated with the loss of dystrophin, which plays an important role in myofiber integrity via interactions with β‐dystroglycan and other members of the transmembrane dystrophin‐associated protein complex. The ZZ domain, a cysteine‐rich zinc‐finger domain near the dystrophin C‐terminus, is implicated in forming a stable interaction between dystrophin and β‐dystroglycan,...
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