Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Identifieur interne : 002F56 ( Istex/Corpus ); précédent : 002F55; suivant : 002F57Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Auteurs : Ruth H. Walker ; Hans H. Jung ; François Tison ; Soohee Lee ; Adrian DanekSource :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
English descriptors
- KwdEn :
Abstract
McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21224
Links to Exploration step
ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation><mods:affiliation>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation><mods:affiliation>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation><mods:affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name><affiliation><mods:affiliation>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation><mods:affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, Germany</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1002/mds.21224</idno><idno type="url">https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F56</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name><affiliation><mods:affiliation>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name><affiliation><mods:affiliation>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name><affiliation><mods:affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</mods:affiliation></affiliation></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name><affiliation><mods:affiliation>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><affiliation><mods:affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, Germany</mods:affiliation></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="244">244</biblScope><biblScope unit="page" to="247">247</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><idno type="DOI">10.1002/mds.21224</idno><idno type="ArticleID">MDS21224</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>McLeod syndrome</term><term>chorea</term><term>neuroacanthocytosis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Ruth H. Walker MB, ChB, PhD</name><affiliations><json:string>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Hans H. Jung MD</name><affiliations><json:string>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</json:string></affiliations></json:item><json:item><name>François Tison MD</name><affiliations><json:string>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</json:string></affiliations></json:item><json:item><name>Soohee Lee PhD</name><affiliations><json:string>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Adrian Danek MD</name><affiliations><json:string>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>McLeod syndrome</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neuroacanthocytosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>chorea</value></json:item></subject><language><json:string>eng</json:string></language><abstract>McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</abstract><qualityIndicators><score>4.015</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>731</abstractCharCount><pdfWordCount>2779</pdfWordCount><pdfCharCount>18931</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>103</abstractWordCount></qualityIndicators><title>Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><genre><json:string>Serial article</json:string></genre><host><volume>22</volume><pages><total>4</total><last>247</last><first>244</first></pages><issn><json:string>0885-3185</json:string></issn><issue>2</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre></genre><language><json:string>unknown</json:string></language><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1002/mds.21224</json:string></doi><id>5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/tei"><teiHeader type="text"><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>Wiley Subscription Services, Inc., A Wiley Company</p></availability><date>2007</date></publicationStmt><notesStmt><note>NIH Specialized Center of Research (SCOR) grant in Transfusion Biology and Medicine - No. HL54459;</note><note>NIH - No. RO1 HL075716;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><author><persName><forename type="first">Ruth H.</forename><surname>Walker</surname><roleName type="degree">MB, ChB, PhD</roleName></persName><note type="correspondence"><p>Correspondence: Department of Neurology (127), Veterans Affairs Medical Center, Bronx, NY 10468</p></note><affiliation>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</affiliation></author><author><persName><forename type="first">Hans H.</forename><surname>Jung</surname><roleName type="degree">MD</roleName></persName><affiliation>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</affiliation></author><author><persName><forename type="first">François</forename><surname>Tison</surname><roleName type="degree">MD</roleName></persName><affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</affiliation></author><author><persName><forename type="first">Soohee</forename><surname>Lee</surname><roleName type="degree">PhD</roleName></persName><affiliation>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Adrian</forename><surname>Danek</surname><roleName type="degree">MD</roleName></persName><affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, Germany</affiliation></author></analytic><monogr><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="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01-15"></date><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="244">244</biblScope><biblScope unit="page" to="247">247</biblScope></imprint></monogr><idno type="istex">5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</idno><idno type="DOI">10.1002/mds.21224</idno><idno type="ArticleID">MDS21224</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>McLeod syndrome</term></item><item><term>neuroacanthocytosis</term></item><item><term>chorea</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>Article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2006-06-21">Received</change><change when="2006-08-09">Registration</change><change when="2007-01-15">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/mds.v22:2</doi><numberingGroup><numbering type="journalVolume" number="22">22</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="2007-01-15">15 January 2007</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="170" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.21224</doi><idGroup><id type="unit" value="MDS21224"></id></idGroup><countGroup><count type="pageTotal" number="4"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2006 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2006-06-21"></event><event type="manuscriptRevised" date="2006-08-02"></event><event type="manuscriptAccepted" date="2006-08-09"></event><event type="publishedOnlineEarlyUnpaginated" date="2006-11-28"></event><event type="firstOnline" date="2006-11-28"></event><event type="publishedOnlineFinalForm" date="2007-01-29"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-09"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">244</numbering><numbering type="pageLast">247</numbering></numberingGroup><correspondenceTo>Department of Neurology (127), Veterans Affairs Medical Center, Bronx, NY 10468</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS21224.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="1"></count><count type="referenceTotal" number="15"></count><count type="wordTotal" number="2227"></count></countGroup><titleGroup><title type="main" xml:lang="en">Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title><title type="short" xml:lang="en">Phenotypic Variation in Brothers with McLeod Syndrome</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Ruth H.</givenNames><familyName>Walker</familyName><degrees>MB, ChB, PhD</degrees></personName><contactDetails><email>ruth.walker@mssm.edu</email></contactDetails></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Hans H.</givenNames><familyName>Jung</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>François</givenNames><familyName>Tison</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Soohee</givenNames><familyName>Lee</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Adrian</givenNames><familyName>Danek</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="CH" type="organization"><unparsedAffiliation>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="FR" type="organization"><unparsedAffiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="DE" type="organization"><unparsedAffiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, Germany</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">McLeod syndrome</keyword><keyword xml:id="kwd2">neuroacanthocytosis</keyword><keyword xml:id="kwd3">chorea</keyword></keywordGroup><fundingInfo><fundingAgency>NIH Specialized Center of Research (SCOR) grant in Transfusion Biology and Medicine</fundingAgency><fundingNumber>HL54459</fundingNumber></fundingInfo><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>RO1 HL075716</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of <i>XK</i> mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 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>Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Phenotypic Variation in Brothers with McLeod Syndrome</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome</title></titleInfo><name type="personal"><namePart type="given">Ruth H.</namePart><namePart type="family">Walker</namePart><namePart type="termsOfAddress">MB, ChB, PhD</namePart><affiliation>Departments of Neurology, Veterans Affairs Medical Center, Bronx, and Mount Sinai School of Medicine, New York, New York, USA</affiliation><description>Correspondence: Department of Neurology (127), Veterans Affairs Medical Center, Bronx, NY 10468</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans H.</namePart><namePart type="family">Jung</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Hospital Zurich, Zurich, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">François</namePart><namePart type="family">Tison</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Service de Neurologie, Groupe Hospitalier Sud, CHU de Bordeaux, Bordeaux, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Soohee</namePart><namePart type="family">Lee</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Lindsley F. Kimball Research Institute, New York Blood Center, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian</namePart><namePart type="family">Danek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Neurologische Klinik und Poliklinik, Ludwig‐Maximilians‐Universität, München, 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">2006-06-21</dateCaptured><dateValid encoding="w3cdtf">2006-08-09</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="tables">1</extent><extent unit="references">15</extent><extent unit="words">2227</extent></physicalDescription><abstract lang="en">McLeod syndrome is an X‐linked multisystem disorder affecting red blood cells, the peripheral and central nervous systems, and skeletal and cardiac muscle. No clear correlations of the clinical findings with the genotype of XK mutations have yet been uncovered. Here, we report the clinical features and progression in 10 affected brothers from 4 families with McLeod syndrome. There is significant variation in clinical presentation within families, including in causes of morbidity and mortality. This phenotypic variation, despite shared mutations, suggests the action of disease‐modifying factors that may explain some of the difficulties with genotype–phenotype correlation in McLeod syndrome. © 2006 Movement Disorder Society</abstract><note type="funding">NIH Specialized Center of Research (SCOR) grant in Transfusion Biology and Medicine - No. HL54459; </note><note type="funding">NIH - No. RO1 HL075716; </note><subject lang="en"><genre>Keywords</genre><topic>McLeod syndrome</topic><topic>neuroacanthocytosis</topic><topic>chorea</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. Disord.</title></titleInfo><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>22</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>244</start><end>247</end><total>4</total></extent></part></relatedItem><identifier type="istex">5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5</identifier><identifier type="DOI">10.1002/mds.21224</identifier><identifier type="ArticleID">MDS21224</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2006 Movement Disorder Society</accessCondition><recordInfo><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002F56 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 002F56 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5
|texte= Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
}}
| This area was generated with Dilib version V0.6.23. |  |