ArticleBMC research notes2019
The analysis of DMD gene deletions by multiplex PCR in Indonesian DMD/BMD patients: the era of personalized medicine.
Article in BMC research notes, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Early Cardiac Dysfunction in Duchenne Muscular Dystrophy: A Case Report and Literature Update.International journal of molecular sciences · 2025Review
- Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Scientific reports · 2023Article
- Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy.PloS one · 2022Article
- Mutation spectrum analysis ofF1000Research · 2022Article
- Complexity of skeletal muscle degeneration: multi-systems pathophysiology and organ crosstalk in dystrophinopathy.Pflugers Archiv : European journal of physiology · 2021Review
- Combination of Genome-Wide Polymorphisms and Copy Number Variations of Pharmacogenes in Koreans.Journal of personalized medicine · 2021Article
- Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.Frontiers in medicine · 2021Article
- Advances in Genetic Characterization and Genotype-Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era.Journal of personalized medicine · 2020Review
- Review
- Using CRISPR/Cas9 System to Knock out Exon 48 inAvicenna journal of medical biotechnologyArticle
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveDuchenne/Becker muscular dystrophy (DMD/BMD) is the most common genetic neuromuscular disease in children, resulting from a defect in the DMD gene located on Xp21.2. The new emerging treatment using exon skipping strategy is tailored to specific mutations, thus molecular diagnostics are particularly important. This study aimed to detect the DMD gene deletion in Indonesian DMD/BMD patients and analyze the potential amenability by exon skipping therapy.
resultsThirty-four male patients were enrolled in this study, 23 of them (67.6%) underwent muscle biopsy and showed the absence or partially expressed dystrophin protein in immunohistochemistry staining. All patients had very high serum CK levels (10.529 ± 9.97 IU/L). Multiplex PCR revealed the DMD gene deletions in 15 (44.1%) cases. Seventy-eight percent of deletions were clustered in the hot-spot region of exon 43 to 52. Furthermore, seven (20.5%) patients were potentially amenable to exon skipping treatment. Therefore, multiplex PCR is one feasible method to detect DMD gene deletion in Indonesian DMD/BMD patients that can further determine the potential amenability of exon skipping therapy. In addition, this study is the first report of DMD gene deletion analysis in Indonesia.
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