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- W2068800766 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 glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG. © 2006 Movement Disorder Society" @default.
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- W2068800766 date "2007-01-01" @default.
- W2068800766 modified "2023-09-25" @default.
- W2068800766 title "Spinocerebellar ataxia 14: Novel mutation in exon 2 ofPRKCG in a German family" @default.
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- W2068800766 doi "https://doi.org/10.1002/mds.21269" @default.
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