## 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 PKCγ. While most affected subjects displayed a late‐onset uncomplicated form o
✦ LIBER ✦
Codon 101 of PRKCG, a preferential mutation site in SCA14
✍ Scribed by Dagmar Nolte; Stephan Klebe; Ralf Baron; Günther Deuschl; Ulrich Müller
- Book ID
- 102508666
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 112 KB
- Volume
- 22
- Category
- Article
- ISSN
- 0885-3185
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## Abstract We describe a novel mutation in the gene coding for protein kinase C gamma (__PRKCG__) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of __PRKCG__ and results in a substitution of glyci