Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Identifieur interne : 002B65 ( Main/Exploration ); précédent : 002B64; suivant : 002B66Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Auteurs : Dagmar Nolte [Allemagne] ; Melanie Landendinger [Allemagne] ; Eberhard Schmitt [Allemagne] ; Ulrich Müller [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- DNA Mutational Analysis, Exon, Exons (genetics), German, Germany, Humans, Male, Middle Aged, Mutation, Nervous system diseases, PRKCG, Pedigree, Point Mutation (genetics), Protein Kinase C (genetics), Protein kinase C, Rare Diseases, SCA14, Signal Transduction, Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, protein kinase C, spinocerebellar ataxia.
- MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Point Mutation, Spinocerebellar Ataxias.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Pedigree, Rare Diseases, Signal Transduction.
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
Url:
DOI: 10.1002/mds.21269
Affiliations:
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Le document en format XML
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<term>PRKCG</term>
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<term>Rare Diseases</term>
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<term>Signal Transduction</term>
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<term>Spinocerebellar Ataxias (genetics)</term>
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<term>protein kinase C</term>
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<front><div type="abstract" xml:lang="en">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</div>
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<tree><country name="Allemagne"><noRegion><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
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<name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
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