The clinical characteristics of spinocerebellar ataxia 36: A study of 2121 Japanese ataxia patients
β Scribed by Katsunobu Sugihara; Hirofumi Maruyama; Hiroyuki Morino; Ryosuke Miyamoto; Hiroki Ueno; Masayasu Matsumoto; Ryuji Kaji; Hiroshi Kitaguchi; Motohiro Yukitake; Yasuto Higashi; Kazuto Nishinaka; Masaya Oda; Yuishin Izumi; Hideshi Kawakami
- Book ID
- 112143472
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 278 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0885-3185
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## Abstract Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. Various mutations have been found in the PRKCG gene encoding protein kinase C Ξ³ in SCA14 families. Most of those mutations have