ArticleThe Ulster medical journal2017
Dystrophin Exon 29 Nonsense Mutations Cause a Variably Mild Phenotype.
Article in The Ulster medical journal, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The trial behind it
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Who cites it
2 citing papers in PubMed.
- Cardiomyopathy Associated with Subclinical Becker Muscular Dystrophy in a Patient Presenting with Anesthesia-induced Rhabdomyolysis.Internal medicine (Tokyo, Japan) · 2026Article
- Evidence in disease and non-disease contexts that nonsense mutations cause altered splicing via motif disruption.Nucleic acids research · 2021Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNonsense mutations in the dystrophin gene usually result in a severe Duchenne muscular dystrophy phenotype.
findingsWe describe a 7-year-old boy with a rare pathogenic mutation in exon 29 c.3940C>T p.(Arg1314Ter) resulting in exon skipping, in turn rescuing the phenotype from a severe Duchenne type to a milder Becker muscular dystrophy type. No adults have been described with this mutation to date.
conclusionsExon skipping of exon 29 results in a higher level of functional dystrophin. Some cases of muscular dystrophy may still require muscle biopsy to determine optimal management and pharmaceutical treatment options.
Indexed as
Identifiers
29581631PMC5849976What OpenQuestion holds
Registered trials
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