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Mov Disord. 2007 Jan 15;22(2):265-7.

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

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1
Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de

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.

PMID:
17149711
DOI:
10.1002/mds.21269
[Indexed for MEDLINE]
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