ArticleAmerican journal of human genetics1995
Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.
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 38 papers.
What it found
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Who cites it
38 citing papers in PubMed, 92 citations in OpenAlex.
- Gene Editing Strategies for Duchenne Muscular Dystrophy: From Molecular Mechanisms to Clinical Translation.Cells · 2026Review
- A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions.Disease models & mechanisms · 2026Article
- Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.International journal of molecular sciences · 2025Review
- Evolution and Breakthroughs in Exon Skipping and Splice Modulation: From Inception to Clinical Success.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Gene Editing for Duchenne Muscular Dystrophy: From Experimental Models to Emerging Therapies.Degenerative neurological and neuromuscular disease · 2025Review
- Assessment of systemic AAV-microdystrophin gene therapy in the GRMD model of Duchenne muscular dystrophy.Science translational medicine · 2023Article
- Current Strategies of Muscular Dystrophy Therapeutics: An Overview.Methods in molecular biology (Clifton, N.J.) · 2023Review
- CRISPR Therapeutics for Duchenne Muscular Dystrophy.International journal of molecular sciences · 2022Review
- Mutation spectrum analysis ofF1000Research · 2022Article
- Revertant Phenomenon in DMD and LGMD2I and Its Therapeutic Implications: A Review of Study Under Mentorship of Terrence Partridge.Journal of neuromuscular diseases · 2021Review
- A high-throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.Acta neuropathologica communications · 2020Article
- CUGC for Duchenne muscular dystrophy (DMD).European journal of human genetics : EJHG · 2018Article
- PITX2 Enhances the Regenerative Potential of Dystrophic Skeletal Muscle Stem Cells.Stem cell reports · 2018Article
- Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.Muscle & nerve · 2018Review
- Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle.Scientific reports · 2017Article
- Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy.Neurology · 2015Article
- What has the mdx mouse model of Duchenne muscular dystrophy contributed to our understanding of this disease?Journal of muscle research and cell motility · 2015Review
- The Skeletal Muscle Environment and Its Role in Immunity and Tolerance to AAV Vector-Mediated Gene Transfer.Current gene therapy · 2015Review
- Proteomic profiling of the dystrophin-deficient mdx phenocopy of dystrophinopathy-associated cardiomyopathy.BioMed research international · 2014Review
- Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most Duchenne muscular dystrophy (DMD) patients have genetic deletions or point mutations in the dystrophin gene that alter the reading frame of dystrophin mRNA. This causes early termination of translation, and no dystrophin (or, less commonly, a truncated N-terminal dystrophin fragment) is produced. In many DMD patients, however, a small proportion of muscle fibers show strong dystrophin staining, and these "revertant fibers" are thought to arise by a mechanism that restores the reading frame. Exon-specific monoclonal antibodies (mAbs) have now been used to determine, for the first time, which exons are removed, in order to correct the reading frame in individual muscle fibers. Thus, 15 revertant fibers in a DMD patient with a frameshift deletion of exon 45 were shown to correct the frameshift by the additional deletion of exon 44 (or perhaps exon 46 in some fibers) from the dystrophin mRNA, but not by larger deletions. This result was consistent with reverse transcription (RT)-PCR and sequencing of a minor dystrophin mRNA with an exon 43/46 junction in this biopsy. In a DMD patient with a frameshift deletion of exons 42 and 43, however, larger deletions than the minimum necessary were used to correct the frameshift. In this patient, who produces a half-size N-terminal dystrophin fragment in all fibers, we were able to show that the revertant dystrophin replaces the truncated dystrophin in revertant-fiber sarcolemma. The results are consistent with somatic mutations in revertant-fiber nuclei, which result in removal of additional exons from dystrophin mRNA.(ABSTRACT TRUNCATED AT 250 WORDS)
Indexed as
Identifiers
7887428PMC1801179W1561279073What 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.