MovDisordV3, Main, Curation, bibRecord, 002D27

Myopathy as a first symptom of Huntington's disease in a Marathon runner

Identifieur interne : 002D27 ( Main/Curation ); précédent : 002D26; suivant : 002D28

Myopathy as a first symptom of Huntington's disease in a Marathon runner

Auteurs : Christoph M. Kosinski [Allemagne] ; Christiane Schlangen [Allemagne] ; Frank N. Gellerich [Allemagne] ; Zemfira Gizatullina [Allemagne] ; Markus Deschauer [Allemagne] ; Johannes Schiefer [Allemagne] ; Anne B. Young [États-Unis] ; Georg Bernhard Landwehrmeyer [Allemagne] ; Klaus V. Toyka [Allemagne] ; Bernd Sellhaus [Allemagne] ; Katrin S. Lindenberg [États-Unis, Allemagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2007-08-15.

RBID : ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D

Descripteurs français

Pascal (Inist)
- Chorée Huntington, Cytopathie mitochondriale, Myopathie, Stress oxydatif, Système nerveux pathologie.

English descriptors

KwdEn :
- Adult, Disease Progression, Humans, Huntington Disease (complications), Huntington Disease (genetics), Huntington disease, Male, Mitochondria, Muscle (pathology), Mitochondrial disorder, Muscle, Skeletal (pathology), Muscular Diseases (etiology), Muscular Diseases (genetics), Muscular Diseases (pathology), Mutation, Myopathy, Nervous system diseases, Oxidative stress, Oxygen Consumption (physiology), Proton Pumps (genetics), Running, mitochondrial disease, neurodegenerative disease, oxidative stress.
MESH :
- chemical , genetics : Proton Pumps.
- complications : Huntington Disease.
- etiology : Muscular Diseases.
- genetics : Huntington Disease, Muscular Diseases.
- pathology : Mitochondria, Muscle, Muscle, Skeletal, Muscular Diseases.
- physiology : Oxygen Consumption.
- Adult, Disease Progression, Humans, Male, Mutation, Running.

Abstract

A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society

Url:

https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/pdf

DOI: 10.1002/mds.21550

Links toward previous steps (curation, corpus...)

to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :003238
to stream Istex, to step Curation: Pour aller vers cette notice dans l'étape Curation :003238
to stream Istex, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001835
to stream PubMed, to step Corpus: Pour aller vers cette notice dans l'étape Curation :002682
to stream PubMed, to step Curation: Pour aller vers cette notice dans l'étape Curation :002682
to stream PubMed, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :002699
to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001C57
to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :001C57
to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001C57
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :003C49
to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001558
to stream PascalFrancis, to step Curation: Pour aller vers cette notice dans l'étape Curation :001763
to stream PascalFrancis, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :001573
to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :004163

Links to Exploration step

ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D

Le document en format XML

<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21550</idno>
<idno type="url">https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003238</idno>
<idno type="wicri:Area/Istex/Curation">003238</idno>
<idno type="wicri:Area/Istex/Checkpoint">001835</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17534945</idno>
<idno type="wicri:Area/PubMed/Corpus">002682</idno>
<idno type="wicri:Area/PubMed/Curation">002682</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002699</idno>
<idno type="wicri:Area/Ncbi/Merge">001C57</idno>
<idno type="wicri:Area/Ncbi/Curation">001C57</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001C57</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:Area/Main/Merge">003C49</idno>
<idno type="wicri:source">INIST</idno>
<idno type="RBID">Pascal:07-0448802</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001558</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001763</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001573</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:Area/Main/Merge">004163</idno>
<idno type="wicri:Area/Main/Curation">002D27</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>KeyNeurotek Pharmaceuticals AG, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Martin‐Luther‐University, Halle</wicri:regionArea>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Martin‐Luther‐University, Halle</wicri:regionArea>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Julius‐Maximilian‐University, Würzburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neuropathology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</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="2007-08-15">2007-08-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">11</biblScope>
<biblScope unit="page" from="1637">1637</biblScope>
<biblScope unit="page" to="1640">1640</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno>
<idno type="DOI">10.1002/mds.21550</idno>
<idno type="ArticleID">MDS21550</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Huntington Disease (complications)</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington disease</term>
<term>Male</term>
<term>Mitochondria, Muscle (pathology)</term>
<term>Mitochondrial disorder</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Muscular Diseases (etiology)</term>
<term>Muscular Diseases (genetics)</term>
<term>Muscular Diseases (pathology)</term>
<term>Mutation</term>
<term>Myopathy</term>
<term>Nervous system diseases</term>
<term>Oxidative stress</term>
<term>Oxygen Consumption (physiology)</term>
<term>Proton Pumps (genetics)</term>
<term>Running</term>
<term>mitochondrial disease</term>
<term>neurodegenerative disease</term>
<term>oxidative stress</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton Pumps</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mitochondria, Muscle</term>
<term>Muscle, Skeletal</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Oxygen Consumption</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Running</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Chorée Huntington</term>
<term>Cytopathie mitochondriale</term>
<term>Myopathie</term>
<term>Stress oxydatif</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</div>
</front>
</TEI>
<double idat="0885-3185:2007:Kosinski C:myopathy:as:a"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Myopathy as a first symptom of huntington's disease in a marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>KeyNeurotek Pharmaceuticals AG</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Martin-Luther-University</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Martin-Luther-University</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernhard Landwehrmeyer, Georg" sort="Bernhard Landwehrmeyer, Georg" uniqKey="Bernhard Landwehrmeyer G" first="Georg" last="Bernhard Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Julius-Maximilian-University</s1>
<s2>Würzburg</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Neuropathology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">07-0448802</idno>
<date when="2007">2007</date>
<idno type="stanalyst">PASCAL 07-0448802 INIST</idno>
<idno type="RBID">Pascal:07-0448802</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001558</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001763</idno>
<idno type="wicri:Area/PascalFrancis/Checkpoint">001573</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:Area/Main/Merge">004163</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Myopathy as a first symptom of huntington's disease in a marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>KeyNeurotek Pharmaceuticals AG</s1>
<s2>Magdeburg</s2>
<s3>DEU</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Martin-Luther-University</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurology, Martin-Luther-University</s1>
<s2>Halle</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Martin-Luther-University</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bernhard Landwehrmeyer, Georg" sort="Bernhard Landwehrmeyer, Georg" uniqKey="Bernhard Landwehrmeyer G" first="Georg" last="Bernhard Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Neurology, Julius-Maximilian-University</s1>
<s2>Würzburg</s2>
<s3>DEU</s3>
<sZ>9 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Neuropathology, University Hospital RWTH</s1>
<s2>Aachen</s2>
<s3>DEU</s3>
<sZ>10 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region>
<region type="district" nuts="2">District de Cologne</region>
<settlement type="city">Aix-la-Chapelle</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
<affiliation wicri:level="2"><inist:fA14 i1="04"><s1>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School</s1>
<s2>Charlestown, Massachusetts</s2>
<s3>USA</s3>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Neurology, Ulm University</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>8 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Huntington disease</term>
<term>Mitochondrial disorder</term>
<term>Myopathy</term>
<term>Nervous system diseases</term>
<term>Oxidative stress</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Myopathie</term>
<term>Chorée Huntington</term>
<term>Cytopathie mitochondriale</term>
<term>Stress oxydatif</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise-induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms.</div>
</front>
</TEI>
</INIST>
<ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno>
<date when="2007" year="2007">2007</date>
<idno type="doi">10.1002/mds.21550</idno>
<idno type="url">https://api.istex.fr/document/CB296A996A45921164E5BA2AA1DA1333805A3A6D/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">003238</idno>
<idno type="wicri:Area/Istex/Curation">003238</idno>
<idno type="wicri:Area/Istex/Checkpoint">001835</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="RBID">pubmed:17534945</idno>
<idno type="wicri:Area/PubMed/Corpus">002682</idno>
<idno type="wicri:Area/PubMed/Curation">002682</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002699</idno>
<idno type="wicri:Area/Ncbi/Merge">001C57</idno>
<idno type="wicri:Area/Ncbi/Curation">001C57</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">001C57</idno>
<idno type="wicri:doubleKey">0885-3185:2007:Kosinski C:myopathy:as:a</idno>
<idno type="wicri:Area/Main/Merge">003C49</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Myopathy as a first symptom of Huntington's disease in a Marathon runner</title>
<author><name sortKey="Kosinski, Christoph M" sort="Kosinski, Christoph M" uniqKey="Kosinski C" first="Christoph M." last="Kosinski">Christoph M. Kosinski</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schlangen, Christiane" sort="Schlangen, Christiane" uniqKey="Schlangen C" first="Christiane" last="Schlangen">Christiane Schlangen</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gellerich, Frank N" sort="Gellerich, Frank N" uniqKey="Gellerich F" first="Frank N." last="Gellerich">Frank N. Gellerich</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>KeyNeurotek Pharmaceuticals AG, Magdeburg</wicri:regionArea>
<placeName><region type="land" nuts="2">Saxe-Anhalt</region>
<settlement type="city">Magdebourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gizatullina, Zemfira" sort="Gizatullina, Zemfira" uniqKey="Gizatullina Z" first="Zemfira" last="Gizatullina">Zemfira Gizatullina</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Martin‐Luther‐University, Halle</wicri:regionArea>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Deschauer, Markus" sort="Deschauer, Markus" uniqKey="Deschauer M" first="Markus" last="Deschauer">Markus Deschauer</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Martin‐Luther‐University, Halle</wicri:regionArea>
<wicri:noRegion>Halle</wicri:noRegion>
<wicri:noRegion>Halle</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Schiefer, Johannes" sort="Schiefer, Johannes" uniqKey="Schiefer J" first="Johannes" last="Schiefer">Johannes Schiefer</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Young, Anne B" sort="Young, Anne B" uniqKey="Young A" first="Anne B." last="Young">Anne B. Young</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Landwehrmeyer, Georg Bernhard" sort="Landwehrmeyer, Georg Bernhard" uniqKey="Landwehrmeyer G" first="Georg Bernhard" last="Landwehrmeyer">Georg Bernhard Landwehrmeyer</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Toyka, Klaus V" sort="Toyka, Klaus V" uniqKey="Toyka K" first="Klaus V." last="Toyka">Klaus V. Toyka</name>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Julius‐Maximilian‐University, Würzburg</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Basse-Franconie</region>
<settlement type="city">Wurtzbourg</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sellhaus, Bernd" sort="Sellhaus, Bernd" uniqKey="Sellhaus B" first="Bernd" last="Sellhaus">Bernd Sellhaus</name>
<affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institute of Neuropathology, University Hospital RWTH Aachen</wicri:regionArea>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
<wicri:noRegion>University Hospital RWTH Aachen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lindenberg, Katrin S" sort="Lindenberg, Katrin S" uniqKey="Lindenberg K" first="Katrin S." last="Lindenberg">Katrin S. Lindenberg</name>
<affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country>
<wicri:regionArea>MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Neurology, Ulm University, Ulm</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Ulm</settlement>
</placeName>
</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="2007-08-15">2007-08-15</date>
<biblScope unit="vol">22</biblScope>
<biblScope unit="issue">11</biblScope>
<biblScope unit="page" from="1637">1637</biblScope>
<biblScope unit="page" to="1640">1640</biblScope>
</imprint>
<idno type="ISSN">0885-3185</idno>
</series>
<idno type="istex">CB296A996A45921164E5BA2AA1DA1333805A3A6D</idno>
<idno type="DOI">10.1002/mds.21550</idno>
<idno type="ArticleID">MDS21550</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Huntington Disease (complications)</term>
<term>Huntington Disease (genetics)</term>
<term>Male</term>
<term>Mitochondria, Muscle (pathology)</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Muscular Diseases (etiology)</term>
<term>Muscular Diseases (genetics)</term>
<term>Muscular Diseases (pathology)</term>
<term>Mutation</term>
<term>Oxygen Consumption (physiology)</term>
<term>Proton Pumps (genetics)</term>
<term>Running</term>
<term>mitochondrial disease</term>
<term>neurodegenerative disease</term>
<term>oxidative stress</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton Pumps</term>
</keywords>
<keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Huntington Disease</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Mitochondria, Muscle</term>
<term>Muscle, Skeletal</term>
<term>Muscular Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="physiology" xml:lang="en"><term>Oxygen Consumption</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Disease Progression</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation</term>
<term>Running</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise‐induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms. © 2007 Movement Disorder Society</div>
</front>
</TEI>
</ISTEX>
</double>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Main/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002D27 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 002D27 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    Main
   |étape=   Curation
   |type=    RBID
   |clé=     ISTEX:CB296A996A45921164E5BA2AA1DA1333805A3A6D
   |texte=   Myopathy as a first symptom of Huntington's disease in a Marathon runner
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

Myopathy as a first symptom of Huntington's disease in a Marathon runner

Myopathy as a first symptom of Huntington's disease in a Marathon runner

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri