Tandem duplications of two separate fragments of the dystrophin gene in a patient with Duchenne muscular dystrophy
โ Scribed by Zhujun Zhang; Yasuhiro Takeshima; Hiroyuki Awano; Atsushi Nishiyama; Yo Okizuka; Mariko Yagi; Masafumi Matsuo
- Publisher
- Nature Publishing Group
- Year
- 2007
- Tongue
- English
- Weight
- 236 KB
- Volume
- 53
- 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
There are rare female patients who suffer from Duchenne or Becker muscular dystrophy because they carry an X;autosome translocation with a breakpoint in the dystrophin gene. We have defined the positions of seven of these breakpoints with respect to exon-containing HindIII fragments detected by dyst