Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
โ Scribed by Takeshima, Yasuhiro; Yagi, Mariko; Okizuka, Yo; Awano, Hiroyuki; Zhang, Zhujun; Yamauchi, Yumiko; Nishio, Hisahide; Matsuo, Masafumi
- Book ID
- 125535813
- Publisher
- Nature Publishing Group
- Year
- 2010
- Tongue
- English
- Weight
- 551 KB
- Volume
- 55
- Category
- Article
- ISSN
- 1435-232X
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๐ SIMILAR VOLUMES
## Communicated by Ulf Landegren Duchenne and Becker muscular dystrophy (DMD and BMD) are caused by mutations in the dystrophin gene. Large rearrangements in the gene are found in about two-thirds of DMD patients, with B60% carrying deletions and 5-10% carrying duplications. Most of the remaining
A boy with the clinical phenotype of Duchenne muscular dystrophy had no detectable deletion or duplication in the dystrophin gene by the routine multiplex PCR method. In mRNA extracted from his muscle biopsy, newly recognized extra-exons of 172 bp and 202 bp were present between exon 25 and 26 sugge