Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Identifieur interne : 003668 ( Istex/Curation ); précédent : 003667; suivant : 003669Spinocerebellar 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.
English descriptors
- KwdEn :
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
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003668
Links to Exploration step
ISTEX:36593247DB6D13D70DEA3212EB42F8C1D8A6BA1CLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family</title><author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author><author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author><author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name><affiliation wicri:level="1"><mods:affiliation>Neurologische Klinik, Klinikum Marienhof, Koblenz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Klinikum Marienhof, Koblenz</wicri:regionArea></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21269</idno><idno type="url">https://api.istex.fr/document/36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">003668</idno><idno type="wicri:Area/Istex/Curation">003668</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family</title><author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author><author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author><author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name><affiliation wicri:level="1"><mods:affiliation>Neurologische Klinik, Klinikum Marienhof, Koblenz, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Neurologische Klinik, Klinikum Marienhof, Koblenz</wicri:regionArea></affiliation></author><author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name><affiliation wicri:level="1"><mods:affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institut für Humangenetik, Justus‐Liebig Universität Giessen</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15">2007-01-15</date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="265">265</biblScope><biblScope unit="page" to="267">267</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C</idno><idno type="DOI">10.1002/mds.21269</idno><idno type="ArticleID">MDS21269</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PRKCG</term><term>SCA14</term><term>protein kinase C</term><term>spinocerebellar ataxia</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003668 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 003668 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:36593247DB6D13D70DEA3212EB42F8C1D8A6BA1C
|texte= Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
}}
| This area was generated with Dilib version V0.6.23. |  |