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Article

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

PloS one - 1 Jan 2016

Toh Zhi Yon Charles, Thandar Aung-Htut May, Pinniger Gavin, Adams Abbie M, Krishnaswarmy Sudarsan, Wong Brenda L, Fletcher Sue, Wilton Steve D

Abstract excerpt

Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame. However, there are striking exceptions where an in-frame genomic deletion leads to severe pathology or protein-truncating mutations (nonsense or frame-shifting indels) manifest as mild disease. Exceptions to the dystrophin reading frame rule...

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Topics

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Share to Dystrophin
Share to Exons

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Muscular Dystrophy, Duchenne

Share to Oligonucleotides, Antisense

Share to RNA Splicing

Share to Sequence Analysis, RNA

Share to Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 26745801
DOI: 10.1371/journal.pone.0145620
PMCID: PMC4706350

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.

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Click a neighbor to travelStep 1 · 12 closest

Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.PMID 26745801Read ↗

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

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Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.Semantic proximity Read ↗

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The Status of Exon Skipping as a Therapeutic Approach to Duchenne Muscular DystrophySemantic proximity Read ↗

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