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Article

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.

Human molecular genetics - 1 Jun 1993

Winnard A V, Klein C J, Coovert D D, Prior T, Papp A, Snyder P, Bulman D E, Ray P N, McAndrew P, King W

Abstract excerpt

The clinical progression of Duchenne muscular dystrophy (DMD) patients with deletions can be predicted in 93% of cases by whether the deletion maintains or disrupts the translational reading frame (frameshift hypothesis). We have identified and studied a number of patients who have deletions that do not conform to the translational frame hypothesis. The most common exception to the frameshift hypothesis is the...

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Source

Identifiers

PMID: 8353493
DOI: 10.1093/hmg/2.6.737

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.PMID 8353493Read ↗

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.Semantic proximity Read ↗

Deletions in the 5' region of dystrophin and resulting phenotypes.Semantic proximity Read ↗

Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule.Semantic proximity Read ↗

In-Frame Deletion of Dystrophin Exons 8-50 Results in DMD Phenotype.Semantic proximity Read ↗

Frameshift deletion mechanisms in Egyptian Duchenne and Becker muscular dystrophy families.Semantic proximity Read ↗

[Deletions in the dystrophin gene and its phenotype expression].Semantic proximity Read ↗

Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.Semantic proximity Read ↗

Amplification of selected exons by polymerase chain reaction enables determination of the translational reading frame of dystrophin mRNA resulting from deletion mutations.Semantic proximity Read ↗

Low-level dystrophin expression attenuating the dystrophinopathy phenotype.Semantic proximity Read ↗

Sarcolemmal expression of dystrophin C-terminus but reduced expression of 6q-dystrophin-related protein in two DMD patients with large deletions of the dystrophin gene.Semantic proximity Read ↗

Re-evaluation of reading frame-shift hypothesis in Duchenne and Becker muscular dystrophy.Semantic proximity Read ↗

Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: threshold effect for deletion size?Semantic proximity Read ↗

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