Deletion analysis and clinical correlations in patients with Xp21 linked muscular dystrophy
We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon...
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| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2004-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2830 |
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| Summary: | We carried out molecular deletion analysis on 142 patients with Duchenne/Becker muscular dystrophy which covered 25 exons of the dystrophin gene. We also evaluated the results by comparing with the clinical findings and examples in the literature. A deletion ratio of 63.7% was achieved. Exon 46 was the most frequently affected region. Interestingly we also observed four cases with muscle promoter (Mp) region deletions which have been rarely reported in the literature.
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| ISSN: | 0041-4301 2791-6421 |