MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001456

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

Identifieur interne : 001456 ( PascalFrancis/Checkpoint ); précédent : 001455; suivant : 001457

Spinocerebellar 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.

RBID : Pascal:07-0133258

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Ataxie spinocérébelleuse, Mutation, Exon, Allemand, Protein kinase C.

English descriptors

KwdEn :
- Exon, German, Mutation, Nervous system diseases, Protein kinase C, Spinocerebellar ataxia.

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.

Affiliations:

Allemagne

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Pascal:07-0133258

Le document en format XML

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<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
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<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Institut für Humangenetik, Justus-Liebig Universität Giessen</wicri:noRegion>
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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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<author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
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<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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<series><title level="j" type="main">Movement disorders</title>
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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.</div>
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<name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

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

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

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri