ArticleActa neuropathologica1990
Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy.
Article in Acta neuropathologica, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 149 citations in OpenAlex.
- Brain imaging in dystrophinopathies.Journal of neurology · 2026Review
- Validation of a Muscle-Specific Tissue Image Analysis Tool for Quantitative Assessment of Dystrophin Staining in Frozen Muscle Biopsies.Archives of pathology & laboratory medicine · 2019Article
- Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification.Toxicologic pathology · 2017Review
- Proceedings of the 2017 National Toxicology Program Satellite Symposium.Toxicologic pathology · 2017Article
- Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.Journal of clinical neurology (Seoul, Korea) · 2017Article
- Impaired regenerative capacity and lower revertant fibre expansion in dystrophin-deficient mdx muscles on DBA/2 background.Scientific reports · 2016Article
- miR-30 family microRNAs regulate myogenic differentiation and provide negative feedback on the microRNA pathway.PloS one · 2015Article
- MMP1 gene expression enhances myoblast migration and engraftment following implanting into mdx/SCID mice.Cell adhesion & migration · 2015Article
- Article
- MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.BMC medical genetics · 2013Article
- Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations.Behavioral and brain functions : BBF · 2008Article
- Mini-dystrophin efficiently incorporates into the dystrophin protein complex in living cells.Journal of muscle research and cell motility · 2006Article
- Immune rejection of human dystrophin following intramuscular injections of naked DNA in mdx mice.Gene therapy · 2000Article
- Diagnostic protein expression in human muscle biopsies.Brain pathology (Zurich, Switzerland) · 2000Review
- Multiplex Western blotting system for the analysis of muscular dystrophy proteins.The American journal of pathology · 1999Article
- How the magnitude of clinical severity and recurrence risk affects reproductive decisions in adult males with different forms of progressive muscular dystrophy.Journal of medical genetics · 1998Article
- The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Journal of medical genetics · 1997Article
- Prednisone can protect against exercise-induced muscle damage.Journal of neurology · 1996Article
- Dilated cardiomyopathy and the dystrophin gene: an illustrated review.British heart journal · 1994Review
- Abnormal dystrophin expression in patients with limb girdle syndromes.Journal of neurology · 1994Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This report documents the results of an integrated biochemical and immunocytochemical investigation into the expression of dystrophin (the protein product of the Duchenne muscular dystrophy gene) in muscle biopsies from 226 patients. It is the first study in which dystrophin has been analysed on blots and on tissue sections in such a large number of patients using the same (monoclonal) antibody. The 140 patients with Xp21 muscular dystrophy who were included in this study represent a continuous spectrum of disease severity and this range was reflected in the heterogeneity of dystrophin expression which was observed with respect to abundance, size and the pattern of tissue localisation. Approximately 40% of biopsies obtained from patients diagnosed as having Duchenne muscular dystrophy (DMD) contained isolated clearly positive fibres and a further 20% had very weak labelling on a large number of fibres. Biopsies from patients with Becker muscular dystrophy (BMD) showed labelling patterns which varied from weak labelling on the majority of fibres to clear labelling on all fibres. Typically, however, there was inter- and intra-fibre variation in labelling intensity. Approximately 85% of the 52 BMD and 54 DMD patients who had unequivocal labelling on blots demonstrated a protein of abnormal size. The remaining 15% had a protein of normal size but reduced abundance. Overall, the estimated abundance of dystrophin correlated well with clinical assessments of the disease severity expressed in patients. We conclude that dystrophin analysis is an essential and dependable technique for the differential diagnosis of patients with Xp21 muscular dystrophy.
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