Advances in the genetics of progressive myoclonus epilepsy
โ Scribed by Delgado-Escueta, A.V. ;Ganesh, Subramaniam ;Yamakawa, Kazuhiro
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 147 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0148-7299
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Two mutations in the cystatin B gene, a 3 splice mutation and a stop codon mutation, were previously found in patients with progressive myoclonus epilepsy of Unverricht-Lundborg type [Pennacchio et al. (1996): Science 271:1731-1734]. We present here a new mutation 2404โฌTC: a 2-bp deletion within the