ArticleInternational journal of medical sciences2014
Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.
Article in International journal of medical sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.Molecular biology reports · 2026Article
- Genetic strategies for therapy of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2025Review
- Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.Journal of neuromuscular diseases · 2025Observational
- Advances in Duchenne Muscular Dystrophy: Diagnostic Techniques and Dystrophin Domain Insights.International journal of molecular sciences · 2025Review
- De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.Investigative ophthalmology & visual science · 2023Article
- Article
- Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.International journal of molecular sciences · 2022Article
- Promising therapeutic approaches of utrophin replacing dystrophin in the treatment of Duchenne muscular dystrophy.Fundamental research · 2022Review
- A population-based study of mortality due to muscular dystrophies across a 36-year period in Spain.Scientific reports · 2022Article
- Therapeutic Application of Extracellular Vesicles-Capsulated Adeno-Associated Virus Vector viaInternational journal of molecular sciences · 2022Review
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- [Expert recommendation: treatment of nonambulatory patients with Duchenne muscular dystrophy].Der Nervenarzt · 2021Review
- Duchenne muscular dystrophy.Nature reviews. Disease primers · 2021Review
- The contribution of X-linked coding variation to severe developmental disorders.Nature communications · 2021Article
- "Betwixt Mine Eye and Heart a League Is Took": The Progress of Induced Pluripotent Stem-Cell-Based Models of Dystrophin-Associated Cardiomyopathy.International journal of molecular sciences · 2020Review
- Quantifying the economic impact of caregiving for Duchenne muscular dystrophy (DMD) in Spain.The European journal of health economics : HEPAC : health economics in prevention and care · 2020Article
- Proximal myopathy: causes and associated conditions.Discoveries (Craiova, Romania)Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchénnè/Becker muscular dystrophies (DMD/BMD) are X-linked diseases, which are caused by a de novo gene mutation in one-third of affected males. The study objectives were to determine the incidence of DMD/BMD in Andalusia (Spain) and to establish the percentage of affected males in whom a de novo gene mutation was responsible.
methodsMultiplex ligation-dependent probe amplification (MLPA) technology was applied to determine the incidence of DMD/BMD in 84 males with suspicion of the disease and 106 female relatives.
resultsDystrophin gene exon deletion (89.5%) or duplication (10.5%) was detected in 38 of the 84 males by MLPA technology; de novo mutations account for 4 (16.7%) of the 24 mother-son pairs studied.
conclusionsMLPA technology is adequate for the molecular diagnosis of DMD/BMD and establishes whether the mother carries the molecular alteration responsible for the disease, a highly relevant issue for genetic counseling.
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