title: Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.
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.
authors.affiliation: Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de
authors.forename: Dagmar
authors.initials: D
authors.lastname: Nolte
authors.forename: Melanie
authors.initials: M
authors.lastname: Landendinger
authors.forename: Eberhard
authors.initials: E
authors.lastname: Schmitt
authors.forename: Ulrich
authors.initials: U
authors.lastname: Müller
mesh_terms: D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005858:Germany; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011493:Protein Kinase C / Q000235:genetics*; D035583:Rare Diseases; D015398:Signal Transduction; D020754:Spinocerebellar Ataxias / Q000145:classification* / Q000235:genetics*
chemical_list: C087857:protein kinase C gamma; D011493:Protein Kinase C