ArticleJournal of child neurology2009
Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
Article in Journal of child neurology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- A new dystrophin-deficient rat model mirroring exon skipping in patients with DMD exon 45 deletions.Disease models & mechanisms · 2026Article
- Identification of two previously unreported Duchenne muscular dystrophy gene variants in a patient diagnosed with a dystrophinopathy: a case report.Journal of medical case reports · 2025Article
- Electrocardiographic features of children with Duchenne muscular dystrophy.Orphanet journal of rare diseases · 2022Review
- Association of genetic mutations and loss of ambulation in childhood-onset dystrophinopathy.Muscle & nerve · 2021Article
- Targeted sequencing of theThe Indian journal of medical research · 2019Article
- A Review of MD STAR net's Research Contributions to Pediatric-Onset Dystrophinopathy in the United States; 2002-2017.Journal of child neurology · 2019Review
- Distribution of dystrophin gene deletions in a Chinese population.The Journal of international medical research · 2016Article
- Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Annals of neurology · 2015Article
- A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.Orphanet journal of rare diseases · 2015Article
- A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.Journal of human genetics · 2014Article
- Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.Orphanet journal of rare diseases · 2012Article
- Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.Journal of neurology · 2011Article
- Current status of pharmaceutical and genetic therapeutic approaches to treat DMD.Molecular therapy : the journal of the American Society of Gene Therapy · 2011Review
- Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.Journal of child neurology · 2010Article
- Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.Child neurology openArticle
Corrections and comments
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Authors and funding
13 authors at 8 institutions in 1 country.
Funding
Abstract
The type and frequency of diagnostic testing was analyzed in a population-based cohort of boys with Duchenne muscular dystrophy or Becker muscular dystrophy. Use of muscle biopsy declined from 66.0% of boys born between January 1982 and September 1987 to 32.6% born between April 1999 and September 2004. DMD mutation was documented for 345 (73.4%) boys. Deletions were more common and point mutations were less common than that has been reported in specialty clinic or laboratory-based cohorts. Deletion of one or more exons was detected in 270 individuals (57.4% of all patients and 78.3% with a DMD mutation). Duplication was identified in 39 individuals (8.3% of all patients and 11.3% with a DMD mutation). Point mutation, small insertion, or small deletion was found in 36 individuals (7.7% of all patients and 10.4% with a DMD mutation). Point mutation analysis was performed in only 37 of 130 (28.5%) individuals with negative deletion and/or duplication testing.
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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.