ArticleJournal of clinical neurology (Seoul, Korea)2017
Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort.
Article in Journal of clinical neurology (Seoul, Korea), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 61 citations in OpenAlex.
- Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.Journal of muscle research and cell motility · 2025Review
- The rise of rat models for Duchenne muscular dystrophy and therapeutic evaluations.Skeletal muscle · 2025Review
- Molecular genetics of dystrophinopathy.Journal of human genetics · 2025Review
- Review
- Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.Journal, genetic engineering & biotechnology · 2024Article
- Dystrophinopathy patient data as a guide to interpretation of pregestational female population screening for DMD gene variants.Neurogenetics · 2024Article
- Progressive cardiomyopathy with intercalated disc disorganization in a rat model of Becker dystrophy.EMBO reports · 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
- On genotype-phenotype relationship of dystrophinopathies among Iranian population.Current journal of neurology · 2023Article
- Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions.Journal of clinical medicine · 2023Article
- Article
- Characteristics of disease progression and genetic correlation in ambulatory Iranian boys with Duchenne muscular dystrophy.BMC neurology · 2022Article
- Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.Journal of neurology · 2022Article
- Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy.Frontiers in pediatrics · 2022Article
- Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.PloS one · 2021Article
- Genotype-Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry.Journal of personalized medicine · 2020Article
- DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles.Molecular genetics & genomic medicine · 2020Article
- DNA Damage: From Threat to Treatment.Cells · 2020Review
- Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.Indian journal of pediatrics · 2020Article
- Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine.Expert opinion on drug discovery · 2020Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeStudies of cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) confirmed by multiplex ligation-dependent probe amplification (MLPA) have determined the clinical characteristics, genotype, and relations between the reading frame and phenotype for different countries. This is the first such study from India.
methodsA retrospective genotype-phenotype analysis of 317 MLPA-confirmed patients with DMD or BMD who visited the neuromuscular clinic of a quaternary referral center in southern India.
resultsThe 317 patients comprised 279 cases of DMD (88%), 32 of BMD (10.1%), and 6 of intermediate phenotype (1.9%). Deletions accounted for 91.8% of cases, with duplications causing the remaining 8.2%. There were 254 cases of DMD (91%) with deletions and 25 (9%) due to duplications, and 31 cases (96.8%) of BMD with deletions and 1 (3.2%) due to duplication. All six cases of intermediate type were due to deletions. The most-common mutation was a single-exon deletion. Deletions of six or fewer exons constituted 68.8% of cases. The deletion of exon 50 was the most common. The reading-frame rule held in 90% of DMD and 94% of BMD cases. A tendency toward a lower IQ and earlier wheelchair dependence was observed with distal exon deletions, though a significant correlation was not found.
conclusionsThe reading-frame rule held in 90% to 94% of children, which is consistent with reports from other parts of the world. However, testing by MLPA is a limitation, and advanced sequencing methods including analysis of the structure of mutant dystrophin is needed for more-accurate assessments of the genotype-phenotype correlation.
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