ArticleAmerican journal of human genetics1995
Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
55 citing papers in PubMed, 122 citations in OpenAlex.
- A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant.Annals of neurology · 2026Article
- Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy.Scientific reports · 2025Article
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.Neurogenetics · 2024Article
- The complex landscape of DMD mutations: moving towards personalized medicine.Frontiers in genetics · 2024Review
- Appendicular lean mass index changes in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.Journal of cachexia, sarcopenia and muscle · 2023Article
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
- Microdystrophin Expression as a Surrogate Endpoint for Duchenne Muscular Dystrophy Clinical Trials.Human gene therapy · 2023Article
- Current Strategies of Muscular Dystrophy Therapeutics: An Overview.Methods in molecular biology (Clifton, N.J.) · 2023Review
- Genetic modifiers of upper limb function in Duchenne muscular dystrophy.Journal of neurology · 2022Article
- Article
- Functional analysis of variants in DMD exon/intron 10 predicted to affect splicing.Journal of human genetics · 2022Article
- Ambulatory Duchenne muscular dystrophy children: cross-sectional correlation between function, quantitative muscle ultrasound and MRI.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2022Article
- Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.PloS one · 2021Article
- Theragnosis for Duchenne Muscular Dystrophy.Frontiers in pharmacology · 2021Article
- Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.Journal of personalized medicine · 2020Article
- Effect of Ataluren on dystrophin mutations.Journal of cellular and molecular medicine · 2020Article
- Article
- Genetic Modifiers of Duchenne Muscular Dystrophy in Chinese Patients.Frontiers in neurology · 2020Article
- The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.PloS one · 2020Article
- Large in-frame 5' deletions in DMD associated with mild Duchenne muscular dystrophy: Two case reports and a review of the literature.Neuromuscular disorders : NMD · 2019Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Duchenne muscular dystrophy (DMD) patients with mutations that disrupt the translational reading frame produce little or no dystrophin. Two exceptions are the deletion of exons 3-7 and the occurrence of rare dystrophin-positive fibers (revertant fibers) in muscle of DMD patients. Antibodies directed against the amino-terminus and the 5' end of exon 8 did not detect dystrophin in muscle from patients who have a deletion of exons 3-7. However, in all cases, dystrophin was detected with an antibody directed against the 3' end of exon 8. The most likely method of dystrophin production in these cases is initiation at a new start codon in exon 8. We also studied two patients who have revertant fibers: one had an inherited duplication of exons 5-7, which, on immunostaining, showed two types of revertant fibers; and the second patient had a 2-bp nonsense mutation in exon 51, which creates a cryptic splice site. An in-frame mRNA that uses this splice site in exon 51 was detected. Immunostaining demonstrated the presence of the 3' end of exon 51, which is in agreement with the use of this mRNA in revertant fibers. The most likely method of dystrophin production in these fibers is a second mutation that restores the reading frame.
Indexed as
Identifiers
7825572PMC1801338W2177346247What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.