## Abstract We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the __PRKCG__/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCΞ³. While most affected subjects displayed a lateβonset uncomplicated form o
β¦ LIBER β¦
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
β Scribed by Dineke S. Verbeek; Bart P. C. van de Warrenburg; F. A. M. Hennekam; Dennis Dooijes; P. F. Ippel; Corien C. Verschuuren-Bemelmans; H. P. H. Kremer; Richard J. Sinke
- Book ID
- 106134267
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 213 KB
- Volume
- 117
- Category
- Article
- ISSN
- 0340-6717
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