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Article

Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.

Annals of neurology - 1 Apr 2015

Findlay Andrew R, Wein Nicolas, Kaminoh Yuuki, Taylor Laura E, Dunn Diane M, Mendell Jerry R, King Wendy M, Pestronk Alan, Florence Julaine M, Mathews Katherine D, Finkel Richard S, Swoboda Kathryn J, Howard Michael T, Day John W, McDonald Craig, Nicolas Aurélie, Le Rumeur Elisabeth, Weiss Robert B, Flanigan Kevin M

Abstract excerpt

OBJECTIVE: Exon-skipping therapies aim to convert Duchenne muscular dystrophy (DMD) into less severe Becker muscular dystrophy (BMD) by altering pre-mRNA splicing to restore an open reading frame, allowing translation of an internally deleted and partially functional dystrophin protein. The most common single exon deletion-exon 45 (Δ45)-may theoretically be treated by skipping of either flanking exon (44 or 46)....

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Child, Preschool
Cohort Studies
Databases, Genetic
Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Therapy

Muscular Dystrophy, Duchenne

Predictive Value of Tests

Treatment Outcome

Source

Open in PubMed Open full text

Identifiers

PMID: 25612243
DOI: 10.1002/ana.24365
PMCID: PMC4376581

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.PMID 25612243Read ↗

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