ArticleJournal of medical genetics1997
The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- Multiplex Ligation-Dependent Probe Amplification (MLPA) for the Detection of Copy Number Mutations in the DMD Gene.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy.Journal of child neurology · 2010Article
- Deletional mutations of dystrophin gene and carrier detection in eastern India.Indian journal of pediatrics · 2009Article
- Isolated and contiguous glycerol kinase gene disorders: a review.Journal of inherited metabolic disease · 2000Review
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Detection of large rearrangements in the dystrophin gene in Duchenne and Becker muscular dystrophy is possible in about 65-70% of patients by Southern blotting or multiplex PCR. Subsequently, carrier detection is possible by assessing the intensity of relevant bands, but preferably by a non-quantitative test method. Detection of microlesions in Duchenne and Becker muscular dystrophy is currently under way. Single strand conformational analysis, heteroduplex analysis, and the protein truncation test are mostly used for this purpose. In this paper we review the available methods for detection of large and small mutations in patients and in carriers and propose a systematic approach for genetic analysis and genetic counselling of DMD and BMD families, including prenatal and preimplantation diagnosis.
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