ArticleCurrent genomics2019
Repurposing Pathogenic Variants of
Article in Current genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Dystrophin Restorative and Compensatory Gene Addition Therapies for Duchenne Muscular Dystrophy: Could CRISPRa Provide a Realistic Alternative?Muscles (Basel, Switzerland) · 2025Review
- 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
- Duchenne Muscular Dystrophy from Brain to Muscle: The Role of Brain Dystrophin Isoforms in Motor Functions.Journal of clinical medicine · 2023Article
- Utility of targeted next generation sequencing for inborn errors of immunity at a tertiary care centre in North India.Scientific reports · 2022Article
- Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.Scientific reports · 2022Article
- Computational cognitive modeling and validation of Dp140 induced alteration of working memory in Duchenne Muscular Dystrophy.Scientific reports · 2020Article
- Working Memory Alterations Plays an Essential Role in Developing Global Neuropsychological Impairment in Duchenne Muscular Dystrophy.Frontiers in psychology · 2020Article
- The Role ofAnnals of neurosciences · 2019Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne Muscular Dystrophy (DMD) is a progressive, fatal neuromuscular disorder caused by mutations in
objectivesPopulation-based
methodsA total of 100 DMD cases were recruited and Multiplex ligation-dependent probe amplification (MLPA) analysis was performed to obtain the deletion and duplication profile.
resultsCopy number variations (deletion/duplication) were found in 80.85% of unrelated DMD cases. Sixty-eight percent of cases were found to have variations in the distal hotspot region (Exon 45-55) of the
conclusionA major proportion of DMD subjects (80%) could be diagnosed by the MLPA technique. The data generated from our study may be beneficial for strengthening of mutation database in the North Indian population.
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