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Article

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

Human mutation - 1 Jun 2003

Tuffery-Giraud Sylvie, Saquet Céline, Chambert Sylvie, Claustres Mireille

Abstract excerpt

We report the characterization of two deep intronic mutations in the Duchenne muscular dystrophy (DMD) gene of two unrelated Becker muscular dystrophy (BMD) patients, causing the aberrant inclusion of a pseudoexon in the mature transcripts. These two mutations were identified by the use of RT-PCR on transcripts isolated from muscle. The first abnormally large transcript resulting from a 58-bp insertion between...

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Source

Identifiers

PMID: 12754707
DOI: 10.1002/humu.10214

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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Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.PMID 12754707Read ↗

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