ArticleOrphanet journal of rare diseases2017
Comprehensive analysis for genetic diagnosis of Dystrophinopathies in Japan.
Article in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 60 citations in OpenAlex.
- Cardiomyopathy Associated with Subclinical Becker Muscular Dystrophy in a Patient Presenting with Anesthesia-induced Rhabdomyolysis.Internal medicine (Tokyo, Japan) · 2026Article
- Long-read sequencing identifies complex structural variants in DMD patients.BMC medical genomics · 2026Article
- Stepwise genetic testing strategy identified pathogenic variants in 10 Chinese duchenne muscular dystrophy patients.Frontiers in genetics · 2026Article
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Clinical Characteristics of Patients With Becker Muscular Dystrophy Having Pathogenic Microvariants or Duplications.Neurology. Genetics · 2025Article
- Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy.The application of clinical genetics · 2025Article
- Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.Orphanet journal of rare diseases · 2024Article
- A novel deep intronic variant introduceHeliyon · 2024Article
- Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting.European journal of medical research · 2024Article
- Clinical Profile and Pulmonary Function of Pediatric Patients with Duchenne Muscular Dystrophy at a Tertiary Government Hospital.Acta medica Philippina · 2024Article
- Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy.Frontiers in cell and developmental biology · 2024Review
- On genotype-phenotype relationship of dystrophinopathies among Iranian population.Current journal of neurology · 2023Article
- Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting theInternational journal of molecular sciences · 2023Article
- Next-generation sequencing approach to molecular diagnosis of Iranian patients with Duchenne/Becker muscular dystrophy: Several novel variants identified.eNeurologicalSci · 2023Article
- Article
- Prevalence Study of Duchene Muscular Dystrophy and its Genetic Sequence in Southern India.Iranian journal of child neurology · 2023Article
- Phenotypic Spectrum of Dystrophinopathy Due to Duchenne Muscular Dystrophy Exon 2 Duplications.Neurology · 2022Observational
- Mutation spectrum analysis ofF1000Research · 2022Article
- The First Comprehensive Cohort of the Duchenne Muscular Dystrophy in Iranian Population: Mutation Spectrum of 314 Patients and Identifying Two Novel Nonsense Mutations.Journal of molecular neuroscience : MN · 2020Article
- Advances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.Journal of personalized medicine · 2020Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne muscular dystrophy (DMD) is the most common disease in children caused by mutations in the DMD gene, and DMD and Becker muscular dystrophy (BMD) are collectively called dystrophinopathies. Dystrophinopathies show a complex mutation spectrum. The importance of mutation databases, with clinical phenotypes and protein studies of patients, is increasingly recognized as a reference for genetic diagnosis and for the development of gene therapy.
methodsWe used the data from the Japanese Registry of Muscular Dystrophy (Remudy) compiled during from July 2009 to March 2017, and reviewed 1497 patients with dystrophinopathies.
resultsThe spectrum of identified mutations contained exon deletions (61%), exon duplications (13%), nonsense mutations (13%), small deletions (5%), small insertions (3%), splice-site mutations (4%), and missense mutations (1%). Exon deletions were found most frequently in the central hot spot region between exons 45-52 (42%), and most duplications were detected in the proximal hot spot region between exons 3-25 (47%). In the 371 patients harboring a small mutation, 194 mutations were reported and 187 mutations were unreported.
conclusionsWe report the largest dystrophinopathies mutation dataset in Japan from a national patient registry, "Remudy". This dataset provides a useful reference to support the genetic diagnosis and treatment of dystrophinopathy.
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