ArticleJournal of human genetics2017
Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Real time-PCR a diagnostic tool for reporting copy number variation and relative gene-expression changes in pediatric B-cell acute lymphoblastic leukemia-a pilot study.Biology methods & protocols · 2025Article
- Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Journal of applied genetics · 2021Article
- Comparison of Carrier andFrontiers in neurology · 2021Article
- Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies.Human mutation · 2020Article
- Differing disease phenotypes of Duchenne muscular dystrophy and Moyamoya disease in female siblings of a Korean family.Molecular genetics & genomic medicine · 2019Article
- Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.Molecular genetics & genomic medicine · 2019Article
- Molecular Genetics Analysis of 70 Chinese Families With Muscular Dystrophy Using Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing.Frontiers in pharmacology · 2019Article
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Authors and funding
5 authors.
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Abstract
Examination of the carrier state was performed in 744 unrelated mothers of the Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) probands with identified mutations in the dystrophin gene. Owing to that it was possible to assess frequency and type of new mutations in the gene. Contrary to the Japanese observations of Lee et al. published in this journal, we did not find significant differences in the carrier frequency between mothers of DMD and BMD patients. However, we found that new mutations in patients with deletions were significantly more frequent than in those with duplications and small mutations: of 564 unrelated patients with deletions, 236 (41.8%) carried new mutations, the respective values for duplications and small mutations were 21 of 95 patients (22.1%) and 18 of 85 patients (21.2%)-the differences highly significant (P<0.0001).
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