ArticlePloS one2021
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 16 citations in OpenAlex.
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- Duchenne muscular dystrophy in Saudi Arabia: a review of the current literature.Frontiers in neurology · 2024Review
- Natural history of Becker muscular dystrophy: a multicenter study of 225 patients.Annals of clinical and translational neurology · 2023Article
- On genotype-phenotype relationship of dystrophinopathies among Iranian population.Current journal of neurology · 2023Article
- Article
- Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.Genes · 2022Article
- Late-Onset Dystrophinopathy.Cureus · 2021Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
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Abstract
Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD. We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with dystrophinopathy. Clinical phenotypes included 120 (53%) Duchenne muscular dystrophy (DMD) cases, 20 (9%) intermediate phenotype muscular dystrophy (IMD) cases, 65 (29%) Becker muscular dystrophy (BMD) cases, 18 (8%) undetermined phenotypes, and 4 (2%) symptomatic carriers. The median ages at symptom onset and diagnosis were 5.0 years (interquartile range [IQR]: 3.8-8.0) and 12.0 years (IQR: 7.0-21.0), respectively. Total manual muscle test (MMT) scores decreased annually in patients with DMD, IMD, and BMD. Overall, when age increased by 1 year, total MMT scores decreased on average by -1.978, -1.681, and -1.303 in patients with DMD (p<0.001), IMD (p<0.001), and BMD (p<0.001), respectively. Exonic deletion and duplication were reported in 147 (67%) and 31 (14%) of the 218 unrelated probands, respectively. A total of 37 different small sequence variants were found in 40 (18%) of the 218 probands. The reading frame rule was applicable to 142 (94%) of the 151 probands. The present results highlight the long-term natural history and genetic spectrum of dystrophinopathy in a large-scale Korean cohort.
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