ArticleJournal of clinical laboratory analysis2015
MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.
Article in Journal of clinical laboratory analysis, 2015. 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.
- Awareness of Duchenne muscular dystrophy among medical staff in China: a multicenter cross-sectional survey.Frontiers in pediatrics · 2026Article
- The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.Children (Basel, Switzerland) · 2024Review
- Mutation spectrum analysis ofF1000Research · 2022Article
- DMD/BMD prenatal diagnosis and treatment expectation in a single centre in China for 15 years.BMC medical genomics · 2021Article
- Embryo-Engineered Nonhuman Primate Models: Progress and Gap to Translational Medicine.Research (Washington, D.C.) · 2021Review
- [A predictive analysis of the association between clinical phenotypes and genotypes in children with Becker muscular dystrophy/Duchenne muscular dystrophy].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Chinese medical journal · 2018Article
- Distribution of dystrophin gene deletions in a Chinese population.The Journal of international medical research · 2016Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDuchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene. We reported 3-year clinic experience from a single hospital in Shanghai using multiplex ligation dependent probe amplification (MLPA) assay to detect DMD mutations.
methodsFour hundred and fifty-one males and 184 females, who were clinically diagnosed as DMD/BMD patients or carriers at our hospital's outpatient clinic, were collected and performed with MLPA to detect DMD gene mutations.
resultsSeventeen novel mutation points not reported in the Leiden Muscular Dystrophy pages were identified in this study. We found that the most frequent deletion spots ranged from exon45 to exon52, and exon2, exon19 were the two most frequently detected duplication spots.
conclusionThe results of our study confirmed MLPA as an efficient clinical method for detecting DMD gene mutations in DMD/BMD patients. Single exon mutation detected by MLPA should be verified by other methods, and we should emphasize that only precise clinical molecular diagnosis can lead to the feasibility of prenatal diagnosis.
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