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Dysferlin Exon 32 Skipping in Patient Cells

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Barthelemy, Florian | Courrier, Sebastien | Lévy, Nicolas | Krahn, Martin | Bartoli, Marc

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International audience. Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.

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