Molecular study and neuropsychological analysis were performed concurrently on 49 patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation for the cognitive impairment observed in most DMD patients. Complete analysis of the dystrophin gene was performed to define the
Deficiency of brain synaptic dystrophin in human duchenne muscular dystrophy
β Scribed by Dr Tae-Wan Kim; Kuo Wu; Ira B. Black
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 380 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0364-5134
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Almost all of the thousands of pathogenic mutations which have been described in the dystrophin gene either reduce protein production or remove large regions of the protein. This has severely limited the use of mutational information for the functional dissection of the dystrophin protein and increa
## 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