Detection of partial deletion and partial duplication of dystrophin gene in Japanese patients with Duchenne or Becker muscular dystrophy
โ Scribed by Keiko Hiyama; Mieko Kodaira; Chiyoko Satoh; Takenori Karakawa; Hitoshi Kameo; Michio Yamakido
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 626 KB
- Volume
- 38
- 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
Gene deletions were screened in 49 Japanese Duchenne muscular dystrophy patients from 43 families, using the polymerase chain reaction. Enzymatic amplification was carried out on six regions prone to deletion. Fifteen of 43 families (33%) had gene deletions in at least one of the six regions. This f
We studied 48 patients with dystrophinopathies (29 Duchenne muscular dystrophy (DMD), 13 Becker muscular dystrophy (BMD), four possible carriers, one female with DMD, and one intermediate form, using polymerase chain reaction (PCR) analysis of muscle tissue for 20 exons and compared them with immuno