Two mutations in one dystrophin gene
✍ Scribed by Zimowski, Janusz; Fidziańska, Elżbieta; Holding, Mariola; Zaremba, Jacek
- Book ID
- 122215758
- Publisher
- Termedia Publishing House
- Year
- 2013
- Tongue
- Polish
- Weight
- 690 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0028-3843
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## Communicated by Martin Bobrow Duchenne (DMD) and Becker (BMD) type muscular dystrophies are allelic X-linked recessive disorders caused by mutations in the gene encoding dystrophin. About 65% of the cases are caused by deletions, while 5-10% are duplications. The remaining 30% of affected indiv
We report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the altern
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