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Science. 2004 Dec 3;306(5702):1796-9. Epub 2004 Nov 4.

Rescue of dystrophic muscle through U7 snRNA-mediated exon skipping.

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Généthon & CNRS UMR 8115, 1, rue de l'Internationale, Evry, France.


Most mutations in the dystrophin gene create a frameshift or a stop in the mRNA and are associated with severe Duchenne muscular dystrophy. Exon skipping that naturally occurs at low frequency sometimes eliminates the mutation and leads to the production of a rescued protein. We have achieved persistent exon skipping that removes the mutated exon on the dystrophin messenger mRNA of the mdx mouse, by a single administration of an AAV vector expressing antisense sequences linked to a modified U7 small nuclear RNA. We report the sustained production of functional dystrophin at physiological levels in entire groups of muscles and the correction of the muscular dystrophy.

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