Population
85 patients with Duchenne and Becker muscular dystrophy, including 29 with mutations disrupting the open…
Authors
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Dystrophin size matching supports frameshift restoration in muscular dystrophy; leaves open whether exon skipping confers clinical benefit.
Protein-level analysis supports genetic evidence of exon skipping as a mechanism restoring frameshifting mutations in some muscle fibers of muscular dystrophy patients.
Nicholson et al. (1992) studied this question.
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