Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Identifieur interne : 003668 ( Istex/Corpus ); précédent : 003667; suivant : 003669Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family
Auteurs : Dagmar Nolte ; Melanie Landendinger ; Eberhard Schmitt ; Ulrich MüllerSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
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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
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ISTEX:36593247DB6D13D70DEA3212EB42F8C1D8A6BA1CLe document en format XML
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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><istex><corpusName>wiley</corpusName><author><json:item><name>Dagmar Nolte PhD</name><affiliations><json:string>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</json:string></affiliations></json:item><json:item><name>Melanie Landendinger</name><affiliations><json:string>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</json:string></affiliations></json:item><json:item><name>Eberhard Schmitt MD</name><affiliations><json:string>Neurologische Klinik, Klinikum Marienhof, Koblenz, Germany</json:string></affiliations></json:item><json:item><name>Ulrich Müller MD, PhD</name><affiliations><json:string>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>spinocerebellar ataxia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>SCA14</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>protein kinase C</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>PRKCG</value></json:item></subject><language><json:string>eng</json:string></language><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. 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The G/T missense mutation occurred in exon 2 of <i>PRKCG</i> 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 <i>PRKCG</i>. © 2006 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><!--Version 0.6 générée le 3-12-2015--><mods version="3.6"><titleInfo lang="en"><title>Spinocerebellar ataxia 14: Novel mutation in exon 2 of PRKCG in a German family</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Novel SCA14 Mutation in Exon 2 of PRKCG</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Spinocerebellar ataxia 14: Novel mutation in exon 2 of</title></titleInfo><name type="personal"><namePart type="given">Dagmar</namePart><namePart type="family">Nolte</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</affiliation><description>Correspondence: Institut für Humangenetik, Justus‐Liebig‐Universität Giessen, Schlangenzahl 14, 35392 Giessen, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Melanie</namePart><namePart type="family">Landendinger</namePart><affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eberhard</namePart><namePart type="family">Schmitt</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik, Klinikum Marienhof, Koblenz, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ulrich</namePart><namePart type="family">Müller</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Institut für Humangenetik, Justus‐Liebig Universität Giessen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre authority="originalCategForm">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2007-01-15</dateIssued><dateCaptured encoding="w3cdtf">2006-07-18</dateCaptured><dateValid encoding="w3cdtf">2006-09-06</dateValid><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">1</extent><extent unit="references">15</extent><extent unit="words">1901</extent></physicalDescription><abstract 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</abstract><subject lang="en"><genre>Keywords</genre><topic>spinocerebellar ataxia</topic><topic>SCA14</topic><topic>protein kinase C</topic><topic>PRKCG</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. 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