<?xml version="1.0" encoding="utf-8"?>
<TEI xmlns="http://www.tei-c.org/ns/1.0" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xmlns:hal="http://hal.archives-ouvertes.fr/" xmlns:gml="http://www.opengis.net/gml/3.3/" xmlns:gmlce="http://www.opengis.net/gml/3.3/ce" version="1.1" xsi:schemaLocation="http://www.tei-c.org/ns/1.0 http://api.archives-ouvertes.fr/documents/aofr-sword.xsd">
  <teiHeader>
    <fileDesc>
      <titleStmt>
        <title>HAL TEI export of hal-03863959</title>
      </titleStmt>
      <publicationStmt>
        <distributor>CCSD</distributor>
        <availability status="restricted">
          <licence target="https://creativecommons.org/publicdomain/zero/1.0/">CC0 1.0 - Universal</licence>
        </availability>
        <date when="2026-05-18T00:30:08+02:00"/>
      </publicationStmt>
      <sourceDesc>
        <p part="N">HAL API Platform</p>
      </sourceDesc>
    </fileDesc>
  </teiHeader>
  <text>
    <body>
      <listBibl>
        <biblFull>
          <titleStmt>
            <title xml:lang="en">Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy</title>
            <author role="aut">
              <persName>
                <forename type="first">Sophie</forename>
                <surname>Nicole</surname>
              </persName>
              <idno type="halauthorid">38517-0</idno>
              <affiliation ref="#struct-542029"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Amina</forename>
                <surname>Chaouch</surname>
              </persName>
              <idno type="halauthorid">1766453-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Torberg</forename>
                <surname>Torbergsen</surname>
              </persName>
              <idno type="halauthorid">2652127-0</idno>
              <affiliation ref="#struct-355396"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Stéphanie</forename>
                <surname>Bauché</surname>
              </persName>
              <email type="md5">e9019ade2720c771d2c5282c71f6a020</email>
              <email type="domain">sorbonne-universite.fr</email>
              <idno type="idhal" notation="string">stephanie-godard-bauche</idno>
              <idno type="idhal" notation="numeric">169892</idno>
              <idno type="halauthorid" notation="string">9171-169892</idno>
              <idno type="ORCID">https://orcid.org/0000-0002-6926-339X</idno>
              <idno type="IDREF">https://www.idref.fr/203658213</idno>
              <affiliation ref="#struct-542029"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Elodie</forename>
                <surname>de Bruyckere</surname>
              </persName>
              <idno type="halauthorid">1273119-0</idno>
              <affiliation ref="#struct-542029"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Marie-Joséphine</forename>
                <surname>Fontenille</surname>
              </persName>
              <idno type="halauthorid">1273118-0</idno>
              <affiliation ref="#struct-542029"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Morten</forename>
                <surname>Horn</surname>
              </persName>
              <idno type="halauthorid">2652128-0</idno>
              <affiliation ref="#struct-468263"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Marijke</forename>
                <surname>van Ghelue</surname>
              </persName>
              <idno type="halauthorid">2652129-0</idno>
              <affiliation ref="#struct-355396"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Sissel</forename>
                <surname>Løseth</surname>
              </persName>
              <idno type="halauthorid">2652130-0</idno>
              <affiliation ref="#struct-355396"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Yasmin</forename>
                <surname>Issop</surname>
              </persName>
              <idno type="halauthorid">1021955-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Daniel</forename>
                <surname>Cox</surname>
              </persName>
              <idno type="halauthorid">2320416-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Juliane</forename>
                <surname>Müller</surname>
              </persName>
              <idno type="halauthorid">676501-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Teresinha</forename>
                <surname>Evangelista</surname>
              </persName>
              <idno type="halauthorid">1687508-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Erik</forename>
                <surname>Stålberg</surname>
              </persName>
              <idno type="halauthorid">2652131-0</idno>
              <affiliation ref="#struct-327137"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Christine</forename>
                <surname>Ioos</surname>
              </persName>
              <email type="md5">b5a956f4c49cda2a4e8a5fbea43cd4ba</email>
              <email type="domain">rpc.ap-hop-paris.fr</email>
              <idno type="idhal" notation="numeric">902591</idno>
              <idno type="halauthorid" notation="string">563398-902591</idno>
              <affiliation ref="#struct-1096943"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Annie</forename>
                <surname>Barois</surname>
              </persName>
              <idno type="halauthorid">573798-0</idno>
              <affiliation ref="#struct-1096943"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Guy</forename>
                <surname>Brochier</surname>
              </persName>
              <idno type="halauthorid">595524-0</idno>
              <affiliation ref="#struct-353778"/>
              <affiliation ref="#struct-541891"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Damien</forename>
                <surname>Sternberg</surname>
              </persName>
              <idno type="halauthorid">309402-0</idno>
              <affiliation ref="#struct-353778"/>
              <affiliation ref="#struct-542029"/>
              <affiliation ref="#struct-541891"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Emmanuel</forename>
                <surname>Fournier</surname>
              </persName>
              <idno type="halauthorid">227461-0</idno>
              <affiliation ref="#struct-353778"/>
              <affiliation ref="#struct-542029"/>
              <affiliation ref="#struct-541891"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Daniel</forename>
                <surname>Hantaï</surname>
              </persName>
              <idno type="halauthorid">197724-0</idno>
              <affiliation ref="#struct-353778"/>
              <affiliation ref="#struct-542029"/>
              <affiliation ref="#struct-541891"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Angela</forename>
                <surname>Abicht</surname>
              </persName>
              <idno type="halauthorid">2652132-0</idno>
              <affiliation ref="#struct-1039750"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Marina</forename>
                <surname>Dusl</surname>
              </persName>
              <idno type="halauthorid">1736863-0</idno>
              <affiliation ref="#struct-1039750"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Steven</forename>
                <surname>Laval</surname>
              </persName>
              <idno type="halauthorid">2652133-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Helen</forename>
                <surname>Griffin</surname>
              </persName>
              <idno type="halauthorid">2058098-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Bruno</forename>
                <surname>Eymard</surname>
              </persName>
              <idno type="halauthorid">197723-0</idno>
              <affiliation ref="#struct-353778"/>
              <affiliation ref="#struct-542029"/>
              <affiliation ref="#struct-541891"/>
            </author>
            <author role="aut">
              <persName>
                <forename type="first">Hanns</forename>
                <surname>Lochmüller</surname>
              </persName>
              <idno type="halauthorid">240696-0</idno>
              <affiliation ref="#struct-252912"/>
            </author>
            <editor role="depositor">
              <persName>
                <forename>Stéphanie</forename>
                <surname>godard-bauché</surname>
              </persName>
              <email type="md5">e9019ade2720c771d2c5282c71f6a020</email>
              <email type="domain">sorbonne-universite.fr</email>
            </editor>
          </titleStmt>
          <editionStmt>
            <edition n="v1" type="current">
              <date type="whenSubmitted">2022-11-21 15:41:29</date>
              <date type="whenModified">2026-02-17 15:46:01</date>
              <date type="whenReleased">2022-11-21 15:41:29</date>
              <date type="whenProduced">2014-09-01</date>
              <ref type="externalLink" target="https://academic.oup.com/brain/article-pdf/137/9/2429/13797931/awu160.pdf"/>
            </edition>
            <respStmt>
              <resp>contributor</resp>
              <name key="671022">
                <persName>
                  <forename>Stéphanie</forename>
                  <surname>godard-bauché</surname>
                </persName>
                <email type="md5">e9019ade2720c771d2c5282c71f6a020</email>
                <email type="domain">sorbonne-universite.fr</email>
              </name>
            </respStmt>
          </editionStmt>
          <publicationStmt>
            <distributor>CCSD</distributor>
            <idno type="halId">hal-03863959</idno>
            <idno type="halUri">https://hal.science/hal-03863959</idno>
            <idno type="halBibtex">nicole:hal-03863959</idno>
            <idno type="halRefHtml">&lt;i&gt;Brain - A Journal of Neurology &lt;/i&gt;, 2014, 137 (9), pp.2429-2443. &lt;a target="_blank" href="https://dx.doi.org/10.1093/brain/awu160"&gt;&amp;#x27E8;10.1093/brain/awu160&amp;#x27E9;&lt;/a&gt;</idno>
            <idno type="halRef">Brain - A Journal of Neurology , 2014, 137 (9), pp.2429-2443. &amp;#x27E8;10.1093/brain/awu160&amp;#x27E9;</idno>
            <availability status="restricted"/>
          </publicationStmt>
          <seriesStmt>
            <idno type="stamp" n="SHS">Sciences de l'Homme et de la Société</idno>
            <idno type="stamp" n="INSERM">INSERM - Institut national de la santé et de la recherche médicale</idno>
            <idno type="stamp" n="CEA">CEA - Commissariat à l'énergie atomique</idno>
            <idno type="stamp" n="CNRS">CNRS - Centre national de la recherche scientifique</idno>
            <idno type="stamp" n="APHP" corresp="INSERM">AP-HP</idno>
            <idno type="stamp" n="ICM" corresp="SORBONNE-UNIVERSITE">Institut du Cerveau et de la Moëlle Epinière</idno>
            <idno type="stamp" n="U974" corresp="SORBONNE-UNIVERSITE">CRM - Centre de recherche en myologie - U974</idno>
            <idno type="stamp" n="SORBONNE-UNIVERSITE">Sorbonne Université</idno>
            <idno type="stamp" n="SU-INF-2018" corresp="SORBONNE-UNIVERSITE">SORBONNE université &lt;2018</idno>
            <idno type="stamp" n="SU-MEDECINE" corresp="SORBONNE-UNIVERSITE">Faculté de Santé de Sorbonne Université</idno>
            <idno type="stamp" n="SU-MED" corresp="SORBONNE-UNIVERSITE">Médecine - Sorbonne Université</idno>
            <idno type="stamp" n="SU-TI">Sorbonne Université - Texte Intégral</idno>
            <idno type="stamp" n="ALLIANCE-SU"> Alliance Sorbonne Université</idno>
            <idno type="stamp" n="U974-E9" corresp="U974">Voies de signalisation &amp; muscles striés</idno>
            <idno type="stamp" n="U974-E10" corresp="U974">Connectivité neuromusculaire en santé &amp; pathologies</idno>
          </seriesStmt>
          <notesStmt>
            <note type="audience" n="2">International</note>
            <note type="popular" n="0">No</note>
            <note type="peer" n="1">Yes</note>
          </notesStmt>
          <sourceDesc>
            <biblStruct>
              <analytic>
                <title xml:lang="en">Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy</title>
                <author role="aut">
                  <persName>
                    <forename type="first">Sophie</forename>
                    <surname>Nicole</surname>
                  </persName>
                  <idno type="halauthorid">38517-0</idno>
                  <affiliation ref="#struct-542029"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Amina</forename>
                    <surname>Chaouch</surname>
                  </persName>
                  <idno type="halauthorid">1766453-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Torberg</forename>
                    <surname>Torbergsen</surname>
                  </persName>
                  <idno type="halauthorid">2652127-0</idno>
                  <affiliation ref="#struct-355396"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Stéphanie</forename>
                    <surname>Bauché</surname>
                  </persName>
                  <email type="md5">e9019ade2720c771d2c5282c71f6a020</email>
                  <email type="domain">sorbonne-universite.fr</email>
                  <idno type="idhal" notation="string">stephanie-godard-bauche</idno>
                  <idno type="idhal" notation="numeric">169892</idno>
                  <idno type="halauthorid" notation="string">9171-169892</idno>
                  <idno type="ORCID">https://orcid.org/0000-0002-6926-339X</idno>
                  <idno type="IDREF">https://www.idref.fr/203658213</idno>
                  <affiliation ref="#struct-542029"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Elodie</forename>
                    <surname>de Bruyckere</surname>
                  </persName>
                  <idno type="halauthorid">1273119-0</idno>
                  <affiliation ref="#struct-542029"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Marie-Joséphine</forename>
                    <surname>Fontenille</surname>
                  </persName>
                  <idno type="halauthorid">1273118-0</idno>
                  <affiliation ref="#struct-542029"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Morten</forename>
                    <surname>Horn</surname>
                  </persName>
                  <idno type="halauthorid">2652128-0</idno>
                  <affiliation ref="#struct-468263"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Marijke</forename>
                    <surname>van Ghelue</surname>
                  </persName>
                  <idno type="halauthorid">2652129-0</idno>
                  <affiliation ref="#struct-355396"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Sissel</forename>
                    <surname>Løseth</surname>
                  </persName>
                  <idno type="halauthorid">2652130-0</idno>
                  <affiliation ref="#struct-355396"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Yasmin</forename>
                    <surname>Issop</surname>
                  </persName>
                  <idno type="halauthorid">1021955-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Daniel</forename>
                    <surname>Cox</surname>
                  </persName>
                  <idno type="halauthorid">2320416-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Juliane</forename>
                    <surname>Müller</surname>
                  </persName>
                  <idno type="halauthorid">676501-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Teresinha</forename>
                    <surname>Evangelista</surname>
                  </persName>
                  <idno type="halauthorid">1687508-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Erik</forename>
                    <surname>Stålberg</surname>
                  </persName>
                  <idno type="halauthorid">2652131-0</idno>
                  <affiliation ref="#struct-327137"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Christine</forename>
                    <surname>Ioos</surname>
                  </persName>
                  <email type="md5">b5a956f4c49cda2a4e8a5fbea43cd4ba</email>
                  <email type="domain">rpc.ap-hop-paris.fr</email>
                  <idno type="idhal" notation="numeric">902591</idno>
                  <idno type="halauthorid" notation="string">563398-902591</idno>
                  <affiliation ref="#struct-1096943"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Annie</forename>
                    <surname>Barois</surname>
                  </persName>
                  <idno type="halauthorid">573798-0</idno>
                  <affiliation ref="#struct-1096943"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Guy</forename>
                    <surname>Brochier</surname>
                  </persName>
                  <idno type="halauthorid">595524-0</idno>
                  <affiliation ref="#struct-353778"/>
                  <affiliation ref="#struct-541891"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Damien</forename>
                    <surname>Sternberg</surname>
                  </persName>
                  <idno type="halauthorid">309402-0</idno>
                  <affiliation ref="#struct-353778"/>
                  <affiliation ref="#struct-542029"/>
                  <affiliation ref="#struct-541891"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Emmanuel</forename>
                    <surname>Fournier</surname>
                  </persName>
                  <idno type="halauthorid">227461-0</idno>
                  <affiliation ref="#struct-353778"/>
                  <affiliation ref="#struct-542029"/>
                  <affiliation ref="#struct-541891"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Daniel</forename>
                    <surname>Hantaï</surname>
                  </persName>
                  <idno type="halauthorid">197724-0</idno>
                  <affiliation ref="#struct-353778"/>
                  <affiliation ref="#struct-542029"/>
                  <affiliation ref="#struct-541891"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Angela</forename>
                    <surname>Abicht</surname>
                  </persName>
                  <idno type="halauthorid">2652132-0</idno>
                  <affiliation ref="#struct-1039750"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Marina</forename>
                    <surname>Dusl</surname>
                  </persName>
                  <idno type="halauthorid">1736863-0</idno>
                  <affiliation ref="#struct-1039750"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Steven</forename>
                    <surname>Laval</surname>
                  </persName>
                  <idno type="halauthorid">2652133-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Helen</forename>
                    <surname>Griffin</surname>
                  </persName>
                  <idno type="halauthorid">2058098-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Bruno</forename>
                    <surname>Eymard</surname>
                  </persName>
                  <idno type="halauthorid">197723-0</idno>
                  <affiliation ref="#struct-353778"/>
                  <affiliation ref="#struct-542029"/>
                  <affiliation ref="#struct-541891"/>
                </author>
                <author role="aut">
                  <persName>
                    <forename type="first">Hanns</forename>
                    <surname>Lochmüller</surname>
                  </persName>
                  <idno type="halauthorid">240696-0</idno>
                  <affiliation ref="#struct-252912"/>
                </author>
              </analytic>
              <monogr>
                <idno type="halJournalId" status="VALID">11274</idno>
                <idno type="issn">0006-8950</idno>
                <idno type="eissn">1460-2156</idno>
                <title level="j">Brain - A Journal of Neurology </title>
                <imprint>
                  <publisher>Oxford University Press</publisher>
                  <biblScope unit="volume">137</biblScope>
                  <biblScope unit="issue">9</biblScope>
                  <biblScope unit="pp">2429-2443</biblScope>
                  <date type="datePub">2014-09-01</date>
                </imprint>
              </monogr>
              <idno type="doi">10.1093/brain/awu160</idno>
              <idno type="pubmed">24951643</idno>
            </biblStruct>
          </sourceDesc>
          <profileDesc>
            <langUsage>
              <language ident="en">English</language>
            </langUsage>
            <textClass>
              <keywords scheme="author">
                <term xml:lang="en">agrin</term>
                <term xml:lang="en">congenital myasthenic syndrome</term>
                <term xml:lang="en">distal myopathy</term>
                <term xml:lang="en">neuromuscular junction</term>
                <term xml:lang="en">presynaptic</term>
              </keywords>
              <classCode scheme="halDomain" n="shs">Humanities and Social Sciences</classCode>
              <classCode scheme="halTypology" n="ART">Journal articles</classCode>
              <classCode scheme="halOldTypology" n="ART">Journal articles</classCode>
              <classCode scheme="halTreeTypology" n="ART">Journal articles</classCode>
            </textClass>
            <abstract xml:lang="en">
              <p>Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission. Their clinical hallmark is fatigable muscle weakness associated with a decremental muscle response to repetitive nerve stimulation and frequently related to postsynaptic defects. Distal myopathies form another clinically and genetically heterogeneous group of primary muscle disorders where weakness and atrophy are restricted to distal muscles, at least initially. In both congenital myasthenic syndromes and distal myopathies, a significant number of patients remain genetically undiagnosed. Here, we report five patients from three unrelated families with a strikingly homogenous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy reminiscent of a distal myopathy. MRI and neurophysiological studies were compatible with mild myopathy restricted to distal limb muscles, but decrement (up to 72%) in response to 3 Hz repetitive nerve stimulation pointed towards a neuromuscular transmission defect. Post-exercise increment (up to 285%) was observed in the distal limb muscles in all cases suggesting presynaptic congenital myasthenic syndrome. Immunofluorescence and ultrastructural analyses of muscle end-plate regions showed synaptic remodelling with denervation-reinnervation events. We performed whole-exome sequencing in two kinships and Sanger sequencing in one isolated case and identified five new recessive mutations in the gene encoding agrin. This synaptic proteoglycan with critical function at the neuromuscular junction was previously found mutated in more typical forms of congenital myasthenic syndrome. In our patients, we found two missense mutations residing in the N-terminal agrin domain, which reduced acetylcholine receptors clustering activity of agrin in vitro. Our findings expand the spectrum of congenital myasthenic syndromes due to agrin mutations and show an unexpected correlation between the mutated gene and the associated phenotype. This provides a good rationale for examining patients with apparent distal myopathy for a neuromuscular transmission disorder and agrin mutations.</p>
            </abstract>
          </profileDesc>
        </biblFull>
      </listBibl>
    </body>
    <back>
      <listOrg type="structures">
        <org type="regrouplaboratory" xml:id="struct-542029" status="VALID">
          <idno type="IdRef">162466021</idno>
          <idno type="ISNI">0000000406205939</idno>
          <idno type="RNSR">200918525B</idno>
          <idno type="ROR">https://ror.org/050gn5214</idno>
          <orgName>Institut du Cerveau = Paris Brain Institute</orgName>
          <orgName type="acronym">ICM</orgName>
          <desc>
            <address>
              <addrLine>47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13</addrLine>
              <country key="FR"/>
            </address>
          </desc>
          <listRelation>
            <relation active="#struct-300068" type="direct"/>
            <relation name="U1127" active="#struct-303623" type="direct"/>
            <relation active="#struct-353778" type="direct"/>
            <relation active="#struct-413221" type="direct"/>
            <relation name="UM75" active="#struct-413221" type="direct"/>
            <relation name="UMR7225" active="#struct-441569" type="direct"/>
          </listRelation>
        </org>
        <org type="institution" xml:id="struct-252912" status="VALID">
          <idno type="ROR">https://ror.org/01kj2bm70</idno>
          <orgName>Newcastle University [Newcastle]</orgName>
          <desc>
            <address>
              <addrLine>Newcastle upon Tyne  NE1 7RU</addrLine>
              <country key="GB"/>
            </address>
            <ref type="url">http://www.ncl.ac.uk/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-355396" status="VALID">
          <idno type="ROR">https://ror.org/030v5kp38</idno>
          <orgName>University Hospital of North Norway [Tromsø]</orgName>
          <orgName type="acronym">UNN</orgName>
          <desc>
            <address>
              <addrLine>Tromsø</addrLine>
              <country key="NO"/>
            </address>
            <ref type="url">https://unn.no/om-oss/university-hospital-of-north-norway#our-hospital-in-tromso</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-468263" status="VALID">
          <idno type="ROR">https://ror.org/00j9c2840</idno>
          <orgName>Oslo University Hospital [Oslo]</orgName>
          <desc>
            <address>
              <addrLine>Kirkeveien 166, 0450 Oslo</addrLine>
              <country key="NO"/>
            </address>
            <ref type="url">http://www.ous-research.no/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-327137" status="VALID">
          <idno type="ROR">https://ror.org/01apvbh93</idno>
          <orgName>Uppsala University Hospital</orgName>
          <desc>
            <address>
              <addrLine>Akademiska sjukhuset, SE-751 85 Uppsala</addrLine>
              <country key="SE"/>
            </address>
          </desc>
        </org>
        <org type="institution" xml:id="struct-1096943" status="VALID">
          <idno type="IdRef">032719922</idno>
          <idno type="ISNI">0000000119560102</idno>
          <idno type="ROR">https://ror.org/03pef0w96</idno>
          <orgName>Hôpital Raymond Poincaré (Garches) [GHU AP-HP Université Paris-Saclay]</orgName>
          <desc>
            <address>
              <addrLine>104, boulevard Raymond-Poincaré – 92380 Garches</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">https://raymondpoincare.aphp.fr/</ref>
          </desc>
          <listRelation>
            <relation active="#struct-300068" type="direct"/>
          </listRelation>
        </org>
        <org type="institution" xml:id="struct-353778" status="VALID">
          <idno type="ROR">https://ror.org/02mh9a093</idno>
          <orgName>CHU Pitié-Salpêtrière [AP-HP]</orgName>
          <desc>
            <address>
              <addrLine>47-83 Boulevard de l'Hôpital, 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.aphp.fr/contenu/hopital-universitaire-pitie-salpetriere-0</ref>
          </desc>
          <listRelation>
            <relation active="#struct-300068" type="direct"/>
            <relation active="#struct-413221" type="direct"/>
          </listRelation>
        </org>
        <org type="regrouplaboratory" xml:id="struct-541891" status="VALID">
          <orgName>Institut de Myologie</orgName>
          <desc>
            <address>
              <addrLine>Hôpital de la Pitié Salpêtrière 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.institut-myologie.org/</ref>
          </desc>
          <listRelation>
            <relation active="#struct-300016" type="direct"/>
            <relation active="#struct-300068" type="direct"/>
            <relation active="#struct-300938" type="direct"/>
            <relation active="#struct-303623" type="direct"/>
            <relation active="#struct-413221" type="direct"/>
            <relation active="#struct-441569" type="direct"/>
          </listRelation>
        </org>
        <org type="institution" xml:id="struct-1039750" status="VALID">
          <orgName>Ludwig-Maximilians University [Munich]</orgName>
          <orgName type="acronym">LMU</orgName>
          <desc>
            <address>
              <addrLine>Geschwister-Scholl-Platz 1 D-80539 München</addrLine>
              <country key="DE"/>
            </address>
            <ref type="url">https://www.lmu.de/en/index.html</ref>
          </desc>
        </org>
        <org type="regroupinstitution" xml:id="struct-300068" status="VALID">
          <idno type="ROR">https://ror.org/00pg5jh14</idno>
          <orgName>Assistance publique - Hôpitaux de Paris (AP-HP)</orgName>
          <orgName type="acronym">AP-HP</orgName>
          <desc>
            <address>
              <country key="FR"/>
            </address>
          </desc>
        </org>
        <org type="institution" xml:id="struct-303623" status="VALID">
          <idno type="IdRef">026388278</idno>
          <idno type="ROR">https://ror.org/02vjkv261</idno>
          <orgName>Institut National de la Santé et de la Recherche Médicale</orgName>
          <orgName type="acronym">INSERM</orgName>
          <desc>
            <address>
              <addrLine>101, rue de Tolbiac, 75013 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.inserm.fr</ref>
          </desc>
        </org>
        <org type="regroupinstitution" xml:id="struct-413221" status="VALID">
          <idno type="IdRef">221333754</idno>
          <idno type="ROR">https://ror.org/02en5vm52</idno>
          <orgName>Sorbonne Université</orgName>
          <orgName type="acronym">SU</orgName>
          <date type="start">2018-01-01</date>
          <desc>
            <address>
              <addrLine>21 rue de l’École de médecine - 75006 Paris</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.sorbonne-universite.fr/</ref>
          </desc>
        </org>
        <org type="regroupinstitution" xml:id="struct-441569" status="VALID">
          <idno type="IdRef">02636817X</idno>
          <idno type="ISNI">0000000122597504</idno>
          <idno type="ROR">https://ror.org/02feahw73</idno>
          <orgName>Centre National de la Recherche Scientifique</orgName>
          <orgName type="acronym">CNRS</orgName>
          <date type="start">1939-10-19</date>
          <desc>
            <address>
              <country key="FR"/>
            </address>
            <ref type="url">https://www.cnrs.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-300016" status="VALID">
          <idno type="IdRef">026372061</idno>
          <idno type="ISNI">0000000122998025</idno>
          <idno type="ROR">https://ror.org/00jjx8s55</idno>
          <idno type="Wikidata">Q868550</idno>
          <orgName>Commissariat à l'énergie atomique et aux énergies alternatives</orgName>
          <orgName type="acronym">CEA</orgName>
          <desc>
            <address>
              <addrLine>Centre de SaclayCentre de GrenobleCentre de Cadaracheetc</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">http://www.cea.fr/</ref>
          </desc>
        </org>
        <org type="institution" xml:id="struct-300938" status="VALID">
          <orgName>Association française contre les myopathies</orgName>
          <orgName type="acronym">AFM-Téléthon</orgName>
          <desc>
            <address>
              <addrLine>1 rue de l'InternationaleBP 5991002 Evry cedex</addrLine>
              <country key="FR"/>
            </address>
            <ref type="url">https://www.afm-telethon.fr/</ref>
          </desc>
        </org>
      </listOrg>
    </back>
  </text>
</TEI>