Infantile neuropathy with unstable myelin: study of the Po protein
Identifieur interne : 000991 ( Istex/Corpus ); précédent : 000990; suivant : 000992Infantile neuropathy with unstable myelin: study of the Po protein
Auteurs : Sylviane Peudenier ; Jean-François Deleuze ; Danièle Pham-Dinh ; Catherine Lacroix ; Jacques Boulloche ; Pierre LandrieuSource :
- Journal of Neurology [ 0340-5354 ] ; 1993-05-01.
Abstract
Abstract: An unusual form of hereditary motor and sensory neuropathy characterized by a prominent disruption of the myelin lamellæ is reported. In addition to detailed morphological analysis, we investigated the protein Po, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in Po protein expression were observed in the present case.
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DOI: 10.1007/BF00838164
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Kremlin-Bicêtre</City><Country>France</Country></OrgAddress></Affiliation><Affiliation ID="Aff4"><OrgName>U.R.A. CNRS U1188</OrgName><OrgAddress><Postcode>F-75270</Postcode><City>Paris</City><Country>France</Country></OrgAddress></Affiliation><Affiliation ID="Aff6"><OrgDivision>Service de Pédiatrie</OrgDivision><OrgName>Hôpital du Havre</OrgName><OrgAddress><Postcode>F-76083</Postcode><City>Le Havre Cedex</City><Country>France</Country></OrgAddress></Affiliation><Affiliation ID="Aff3"><OrgDivision>Service de Pédiatrie, Génétique Médicale, Hôpital de Pontchaillou</OrgDivision><OrgName>Centre Hospitalier Regional et Universitaire de Rennes</OrgName><OrgAddress><City>Rennes</City><Country>France</Country></OrgAddress></Affiliation></AuthorGroup><Abstract ID="Abs1" Language="En"><Heading>Abstract</Heading><Para>An unusual form of hereditary motor and sensory neuropathy characterized by a prominent disruption of the myelin lamellæ is reported. In addition to detailed morphological analysis, we investigated the protein Po, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in Po protein expression were observed in the present case.</Para></Abstract><KeywordGroup Language="En"><Heading>Key words</Heading><Keyword>Infantile demyelinating neuropathy</Keyword><Keyword>Po protein</Keyword><Keyword>Candidate gene</Keyword></KeywordGroup></ArticleHeader><NoBody></NoBody></Article></Issue></Volume></Journal></Publisher></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Infantile neuropathy with unstable myelin: study of the Po protein</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Infantile neuropathy with unstable myelin: study of the Po protein</title></titleInfo><name type="personal" displayLabel="corresp"><namePart type="given">Sylviane</namePart><namePart type="family">Peudenier</namePart><affiliation>Service de Neuropédiatrie, CHU de Bicêtre, F-94270, Le Kremlin-Bicêtre, France</affiliation><affiliation>Unité INSERM U347, CHU de Bicêtre, F-94270, Le Kremlin-Bicêtre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jean-François</namePart><namePart type="family">Deleuze</namePart><affiliation>Unité INSERM U347, CHU de Bicêtre, F-94270, Le Kremlin-Bicêtre, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Danièle</namePart><namePart type="family">Pham-Dinh</namePart><affiliation>U.R.A. 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In addition to detailed morphological analysis, we investigated the protein Po, which is the major protein of peripheral myelin involved in adhesion. No major gene rearrangement and no differences in Po protein expression were observed in the present case.</abstract><note>Original Communications</note><relatedItem type="host"><titleInfo><title>Journal of Neurology</title></titleInfo><titleInfo type="abbreviated"><title>J Neurol</title></titleInfo><genre type="journal" displayLabel="Archive Journal"></genre><originInfo><dateIssued encoding="w3cdtf">1993-05-01</dateIssued><copyrightDate encoding="w3cdtf">1993</copyrightDate></originInfo><subject><genre>Medicine & Public Health</genre><topic>Neurosciences</topic><topic>Neuroradiology</topic><topic>Neurology</topic></subject><identifier type="ISSN">0340-5354</identifier><identifier type="eISSN">1432-1459</identifier><identifier type="JournalID">415</identifier><identifier type="IssueArticleCount">16</identifier><identifier type="VolumeIssueCount">8</identifier><part><date>1993</date><detail type="volume"><number>240</number><caption>vol.</caption></detail><detail type="issue"><number>5</number><caption>no.</caption></detail><extent unit="pages"><start>291</start><end>294</end></extent></part><recordInfo><recordOrigin>Springer-Verlag, 1993</recordOrigin></recordInfo></relatedItem><identifier type="istex">4ABCE6BA3C5922401E569016C381B8D39E69480A</identifier><identifier type="DOI">10.1007/BF00838164</identifier><identifier type="ArticleID">BF00838164</identifier><identifier type="ArticleID">Art7</identifier><accessCondition type="use and reproduction" contentType="copyright">Springer-Verlag, 1993</accessCondition><recordInfo><recordContentSource>SPRINGER</recordContentSource><recordOrigin>Springer-Verlag, 1993</recordOrigin></recordInfo></mods></metadata><enrichments><json:item><type>multicat</type><uri>https://api.istex.fr/document/4ABCE6BA3C5922401E569016C381B8D39E69480A/enrichments/multicat</uri></json:item><json:item><type>refBibs</type><uri>https://api.istex.fr/document/4ABCE6BA3C5922401E569016C381B8D39E69480A/enrichments/refBibs</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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