ArticleHuman genetics
Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy.
Article in Human genetics. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Clinical phenotypes as predictors of the outcome of skipping around DMD exon 45.Annals of neurology · 2015Article
- Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.Journal of medical genetics · 1996Article
- Dilated cardiomyopathy and the dystrophin gene: an illustrated review.British heart journal · 1994Review
- Microlesions and polymorphisms in the Duchenne/Becker muscular dystrophy gene.Human genetics · 1994Article
- The rates and patterns of deletions in the human factor IX gene.American journal of human genetics · 1994Article
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A total of 56 Duchenne muscular dystrophy (DMD) patients and 11 Becker muscular dystrophy (BMD) patients was analyzed by extended "multiplex" amplification of the DMD/BMD gene; deletions were found in 60% of these patients. The data obtained were used to test the frameshift hypothesis and to compare the distribution of familial versus isolated cases. A significant correlation was found between deletions and isolated cases. Additional experiments were performed in order to determine the deletion breakpoints more precisely. These data are a prerequisite for carrier analysis in the respective families by detection or exclusion of aberrant cDNA fragments derived from ectopic lymphocyte RNA. This diagnostic technique is illustrated by 5 examples.
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