Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.
Identifieur interne : 002644 ( PubMed/Checkpoint ); précédent : 002643; suivant : 002645Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.
Auteurs : Ruth H. Walker [États-Unis] ; Hans H. Jung ; François Tison ; Soohee Lee ; Adrian DanekSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adult, Age Factors, Amino Acid Transport Systems, Neutral (genetics), Atrial Fibrillation (complications), Atrial Fibrillation (pathology), Atrial Fibrillation (physiopathology), Brain (pathology), Central Nervous System Diseases (complications), Central Nervous System Diseases (genetics), Central Nervous System Diseases (pathology), Chorea (genetics), Chorea (pathology), Chromosomes, Human, X (genetics), Genetic Variation (genetics), Genotype, Humans, Magnetic Resonance Imaging, Male, Muscle Weakness (physiopathology), Muscle, Skeletal (pathology), Muscle, Skeletal (physiopathology), Myocardium (pathology), Peripheral Nervous System Diseases (complications), Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (pathology), Phenotype, Siblings, Syndrome.
- MESH :
- chemical , genetics : Amino Acid Transport Systems, Neutral.
- complications : Atrial Fibrillation, Central Nervous System Diseases, Peripheral Nervous System Diseases.
- genetics : Central Nervous System Diseases, Chorea, Chromosomes, Human, X, Genetic Variation, Peripheral Nervous System Diseases.
- pathology : Atrial Fibrillation, Brain, Central Nervous System Diseases, Chorea, Muscle, Skeletal, Myocardium, Peripheral Nervous System Diseases.
- physiopathology : Atrial Fibrillation, Muscle Weakness, Muscle, Skeletal.
- Adult, Age Factors, Genotype, Humans, Magnetic Resonance Imaging, Male, Phenotype, Siblings, Syndrome.
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.
DOI: 10.1002/mds.21224
PubMed: 17133513
Affiliations:
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<record><TEI><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 wicri:level="1"><nlm:affiliation>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468</wicri:regionArea><wicri:noRegion>New York 10468</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21224</idno><idno type="RBID">pubmed:17133513</idno><idno type="pmid">17133513</idno><idno type="wicri:Area/PubMed/Corpus">002965</idno><idno type="wicri:Area/PubMed/Curation">002965</idno><idno type="wicri:Area/PubMed/Checkpoint">002644</idno></publicationStmt><sourceDesc><biblStruct><analytic><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 wicri:level="1"><nlm:affiliation>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468</wicri:regionArea><wicri:noRegion>New York 10468</wicri:noRegion></affiliation></author><author><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name></author><author><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></author><author><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></author><author><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Amino Acid Transport Systems, Neutral (genetics)</term><term>Atrial Fibrillation (complications)</term><term>Atrial Fibrillation (pathology)</term><term>Atrial Fibrillation (physiopathology)</term><term>Brain (pathology)</term><term>Central Nervous System Diseases (complications)</term><term>Central Nervous System Diseases (genetics)</term><term>Central Nervous System Diseases (pathology)</term><term>Chorea (genetics)</term><term>Chorea (pathology)</term><term>Chromosomes, Human, X (genetics)</term><term>Genetic Variation (genetics)</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Muscle Weakness (physiopathology)</term><term>Muscle, Skeletal (pathology)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myocardium (pathology)</term><term>Peripheral Nervous System Diseases (complications)</term><term>Peripheral Nervous System Diseases (genetics)</term><term>Peripheral Nervous System Diseases (pathology)</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Amino Acid Transport Systems, Neutral</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Atrial Fibrillation</term><term>Central Nervous System Diseases</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Central Nervous System Diseases</term><term>Chorea</term><term>Chromosomes, Human, X</term><term>Genetic Variation</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Brain</term><term>Central Nervous System Diseases</term><term>Chorea</term><term>Muscle, Skeletal</term><term>Myocardium</term><term>Peripheral Nervous System Diseases</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Atrial Fibrillation</term><term>Muscle Weakness</term><term>Muscle, Skeletal</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age Factors</term><term>Genotype</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Phenotype</term><term>Siblings</term><term>Syndrome</term></keywords></textClass></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17133513</PMID><DateCreated><Year>2007</Year><Month>02</Month><Day>05</Day></DateCreated><DateCompleted><Year>2007</Year><Month>03</Month><Day>23</Day></DateCompleted><DateRevised><Year>2008</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>22</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>Jan</Month><Day>15</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome.</ArticleTitle><Pagination><MedlinePgn>244-8</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>(c) 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Walker</LastName><ForeName>Ruth H</ForeName><Initials>RH</Initials><AffiliationInfo><Affiliation>Departments of Neurology, Veterans Affairs Medical Center, New York, New York 10468, USA. ruth.walker@mssm.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jung</LastName><ForeName>Hans H</ForeName><Initials>HH</Initials></Author><Author ValidYN="Y"><LastName>Tison</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lee</LastName><ForeName>Soohee</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Danek</LastName><ForeName>Adrian</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>HL54459</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>R01 HL075716</GrantID><Acronym>HL</Acronym><Agency>NHLBI NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D026921">Amino Acid Transport Systems, Neutral</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C087883">XK protein, human</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000367">Age Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D026921">Amino Acid Transport Systems, Neutral</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001281">Atrial Fibrillation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001921">Brain</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002493">Central Nervous System Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D041321">Chromosomes, Human, X</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014644">Genetic Variation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008279">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018908">Muscle Weakness</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018482">Muscle, Skeletal</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009206">Myocardium</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010523">Peripheral Nervous System Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000150">complications</QualifierName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D035781">Siblings</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>3</Month><Day>24</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>11</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21224</ArticleId><ArticleId IdType="pubmed">17133513</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H" last="Jung">Hans H. Jung</name><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></noCountry><country name="États-Unis"><noRegion><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H" last="Walker">Ruth H. Walker</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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