ArticleIndian journal of human genetics2012
Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy.
Article in Indian journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Accuracy of the molecular diagnosis of duchenne and becker muscular dystrophy: A systematic review with meta-analysis.PloS one · 2026Pooled it
- Prenatal Diagnosis and Genomics in India - Historical Review, Current Status and Road Ahead.Indian journal of pediatrics · 2026Review
- Navigating Genetic Testing for India.Indian journal of pediatrics · 2026Article
- Genomic insights into Duchene muscular dystrophy: Analysis of 1250 patients reveals 30% novel genetic patterns and 6 novel variants.Journal, genetic engineering & biotechnology · 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
- Mutation spectrum analysis ofF1000Research · 2022Article
- Matrilineal analysis of mutations in the DMD gene in a multigenerational South Indian cohort using DMD gene panel sequencing.Molecular genetics & genomic medicine · 2021Article
- Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy.Indian journal of pediatrics · 2020Article
- Mutation pattern in 606 Duchenne muscular dystrophy children with a comparison between familial and non-familial forms: a study in an Indian large single-center cohort.Journal of neurology · 2019Article
- Molecular Analysis-Based Genetic Characterization of a Cohort of Patients with Duchenne and Becker Muscular Dystrophy in Eastern China.Chinese medical journal · 2018Article
- Duchenne Muscular Dystrophy: a Survey of Perspectives on Carrier Testing and Communication Within the Family.Journal of genetic counseling · 2016Article
- MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai.Journal of clinical laboratory analysis · 2015Article
- The use of cffDNA in fetal sex determination during the first trimester of pregnancy of female DMD carriers.Intractable & rare diseases research · 2012Article
- Study of Dystrophinopathy in Eastern Uttar Pradesh Population of India.Journal of pediatric neurosciencesArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextMultiplex ligation probe amplification (MLPA) is a new technique to identify deletions and duplications and can evaluate all 79 exons in dystrophin gene in patients with Duchenne muscular dystrophy (DMD). Being semi-quantitative, MLPA is also effective in detecting duplications and carrier testing of females; both of which cannot be done using multiplex PCR. It has found applications in diagnostics of many genetic disorders.
aimTo study the utility of MLPA in diagnosis and carrier detection for DMD. MATERIALS AND
methodsMutation analysis and carrier detection was done by multiplex PCR and MLPA and the results were compared. RESULTS AND
conclusionsWe present data showing utility of MLPA in identifying mutations in cases with DMD/BMD. In the present study using MLPA, we identified mutations in additional 5.6% cases of DMD in whom multiplex PCR was not able to detect intragenic deletions. In addition, MLPA also correctly confirmed carrier status of two obligate carriers and revealed carrier status in 6 of 8 mothers of sporadic cases.
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