ArticleJournal of human genetics2014
Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 64 citations in OpenAlex.
- Evaluation of protein expression and oxidative stress index in Duchenne muscular dystrophy.Pediatric research · 2026Article
- A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?Journal of genetic counseling · 2025Review
- Cognitive changes and brain structural abnormalities in female carriers of DMD pathogenic variants.Journal of neurology · 2025Article
- Burden of Duchenne muscular dystrophy in Australia: a scoping review.BMJ neurology open · 2025Article
- Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients.Neurogenetics · 2024Article
- Caregiver Burden with Duchenne and Becker Muscular Dystrophy in Japan: A Clinical Observation Study.Internal medicine (Tokyo, Japan) · 2024Article
- Draft Guidance for Industry Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Related Dystrophinopathies - Developing Potential Treatments for the Entire Spectrum of Disease.Journal of neuromuscular diseases · 2024Article
- Identification of osteoporosis genes using family studies.Frontiers in endocrinology · 2024Review
- Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family.Molecular syndromology · 2023Article
- Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms.Orphanet journal of rare diseases · 2023Article
- Preliminary Results of a Genetic Study of Children with Duchenne Myodystrophy in Aktobe, Kazakhstan.Archives of Razi Institute · 2023Article
- Diagnostic experiences of Duchenne families and their preferences for newborn screening: A mixed-methods study.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Article
- Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Clinical and Genetic Characteristics in Young, Glucocorticoid-Naive Boys With Duchenne Muscular Dystrophy.Neurology · 2022Article
- Mutation spectrum analysis ofF1000Research · 2022Article
- Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing.RNA biology · 2021Review
- Small mutations in Duchenne/Becker muscular dystrophy in 164 unrelated Polish patients.Journal of applied genetics · 2021Article
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- Comparison of Carrier andFrontiers in neurology · 2021Article
- Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked inherited muscular disorders caused by mutations in the dystrophin gene. Two-thirds of DMD cases are thought to be caused by inheritance from carrier mothers and this study aimed to clarify and compare the carrier frequency of mothers of DMD and BMD patients according to the mutation type. We included 139 DMD and 19 BMD mothers. Of these, 113 patients (99 DMD and 14 BMD) and 13 patients (12 DMD and 1 BMD) had deletions and duplications of one or more exons, respectively. Small mutations, including nonsense mutations, small deletions/insertions and splice site mutations, were identified in 32 patients (28 DMD and four BMD). The overall carrier frequency for BMD mothers was significantly higher than for DMD (89.5% vs 57.6%, P<0.05), probably as BMD patients can leave descendants. The carrier frequency tended to be lower in mothers of DMD patients with deletion mutations than with duplications and small mutations (53.5%, 66.7% and 67.9%, respectively). It was suggested that de novo mutations are more prevalent for deletions than other mutations. This is the first report to analyze the carrier frequency according to mutation type.
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