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Article

DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.

Annals of neurology - 1 Jan 2008

Gurvich Olga L, Tuohy Therese M, Howard Michael T, Finkel Richard S, Medne Livija, Anderson Christine B, Weiss Robert B, Wilton Steve D, Flanigan Kevin M

Abstract excerpt

OBJECTIVE: The degenerative muscle diseases Duchenne (DMD) and Becker muscular dystrophy result from mutations in the DMD gene, which encodes the dystrophin protein. Recent improvements in mutational analysis techniques have resulted in the increasing identification of deep intronic point mutations, which alter splicing such that intronic sequences are included in the messenger RNA as "pseudoexons." We sought to...

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Share to Dystrophin
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Fibers, Skeletal

Share to Muscular Dystrophy, Duchenne

Share to Oligonucleotides, Antisense

Share to RNA Precursors

Share to RNA Splice Sites

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Source

Identifiers

PMID: 18059005
DOI: 10.1002/ana.21290

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.PMID 18059005Read ↗

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