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

Nolte Dagmar | Zendy; Landendinger Melanie | Zendy; Schmitt Eberhard | Zendy; Müller Ulrich | Zendy

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

Author(s) -

Nolte Dagmar,

Landendinger Melanie,

Schmitt Eberhard,

Müller Ulrich

Publication year - 2006

Publication title -

movement disorders

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.352

H-Index - 198

eISSN - 1531-8257

pISSN - 0885-3185

DOI - 10.1002/mds.21269

Subject(s) - exon , missense mutation , genetics , mutation , spinocerebellar ataxia , ataxia , gait ataxia , biology , gene , neuroscience

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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