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Spinocerebellar ataxia type 36 (SCA36): Expanding the Genotype and Phenotype

✍ Scribed by Obayashi, M.; Ishikawa, K.; Stevanin, G.; Synofzik, M.; Klopstock, T.; Mizusawa, H.; Dürr, A.; Brice, A.

Book ID
122673134
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
83 KB
Volume
333
Category
Article
ISSN
0022-510X

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## 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