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Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

Muscle & nerve - 1 Aug 2006

Aartsma-Rus Annemieke, Van Deutekom Judith C T, Fokkema Ivo F, Van Ommen Gert-Jan B, Den Dunnen Johan T

Abstract excerpt

The severe Duchenne and milder Becker muscular dystrophy are both caused by mutations in the DMD gene. This gene codes for dystrophin, a protein important for maintaining the stability of muscle-fiber membranes. In 1988, Monaco and colleagues postulated an explanation for the phenotypic difference between Duchenne and Becker patients in the reading-frame rule: In Duchenne patients, mutations induce a shift in the...

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Identifiers

PMID: 16770791
DOI: 10.1002/mus.20586

Genes

DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.PMID 16770791Read ↗

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Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.Semantic proximity Read ↗

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.Semantic proximity Read ↗

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