Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Identifieur interne : 000324 ( France/Analysis ); précédent : 000323; suivant : 000325Phenotypic variation among brothers with the McLeod neuroacanthocytosis syndrome
Auteurs : Ruth H. Walker [États-Unis] ; Hans H. Jung [Suisse] ; François Tison [France] ; Soohee Lee [États-Unis] ; Adrian Danek [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
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, Chorea (genetics), Chorea (pathology), Chromosomes, Human, X (genetics), Genetic Variation (genetics), Genotype, Humans, MacLeod syndrome, Magnetic Resonance Imaging, Male, McLeod syndrome, Muscle Weakness (physiopathology), Muscle, Skeletal (pathology), Muscle, Skeletal (physiopathology), Myocardium (pathology), Nervous system diseases, Peripheral Nervous System Diseases (complications), Peripheral Nervous System Diseases (genetics), Peripheral Nervous System Diseases (pathology), Phenotype, Sex linked character, Siblings, Syndrome, chorea, neuroacanthocytosis.
- 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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21224
Affiliations:
- Allemagne, France, Suisse, États-Unis
- Bavière, District de Haute-Bavière, État de New York
- Bordeaux, Munich
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ISTEX:5F2D2EC4DF7E38678A43F044DF83C2E544BFEFE5Le document en format XML
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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>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</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>MacLeod syndrome</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>McLeod syndrome</term><term>Muscle Weakness (physiopathology)</term><term>Muscle, Skeletal (pathology)</term><term>Muscle, Skeletal (physiopathology)</term><term>Myocardium (pathology)</term><term>Nervous system diseases</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>Sex linked character</term><term>Siblings</term><term>Syndrome</term><term>chorea</term><term>neuroacanthocytosis</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><keywords scheme="Pascal" xml:lang="fr"><term>Caractère lié au sexe</term><term>Chorée syndrome</term><term>Syndrome de MacLeod</term><term>Système nerveux pathologie</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><affiliations><list><country><li>Allemagne</li><li>France</li><li>Suisse</li><li>États-Unis</li></country><region><li>Bavière</li><li>District de Haute-Bavière</li><li>État de New York</li></region><settlement><li>Bordeaux</li><li>Munich</li></settlement></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Walker, Ruth H" sort="Walker, Ruth H" uniqKey="Walker R" first="Ruth H." last="Walker">Ruth H. Walker</name></region><name sortKey="Lee, Soohee" sort="Lee, Soohee" uniqKey="Lee S" first="Soohee" last="Lee">Soohee Lee</name></country><country name="Suisse"><noRegion><name sortKey="Jung, Hans H" sort="Jung, Hans H" uniqKey="Jung H" first="Hans H." last="Jung">Hans H. Jung</name></noRegion></country><country name="France"><noRegion><name sortKey="Tison, Francois" sort="Tison, Francois" uniqKey="Tison F" first="François" last="Tison">François Tison</name></noRegion></country><country name="Allemagne"><region name="Bavière"><name sortKey="Danek, Adrian" sort="Danek, Adrian" uniqKey="Danek A" first="Adrian" last="Danek">Adrian Danek</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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