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Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family

✍ Scribed by Dagmar Nolte; Melanie Landendinger; Eberhard Schmitt; Ulrich Müller

Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
202 KB
Volume
22
Category
Article
ISSN
0885-3185

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✦ Synopsis

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

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