Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
Identifieur interne : 005636 ( Main/Exploration ); précédent : 005635; suivant : 005637Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
Auteurs : Johann Böhm [France] ; Valérie Biancalana [France] ; Elizabeth T. Dechene [États-Unis] ; Marc Bitoun [France] ; Christopher R. Pierson [États-Unis] ; Elise Schaefer [France] ; Hatice Karasoy [Turquie] ; Melissa A. Dempsey [États-Unis] ; Fabrice Klein [France] ; Nicolas Dondaine [France] ; Christine Kretz [France] ; Nicolas Haumesser [France] ; Claire Poirson [France] ; Anne Toussaint [France] ; Rebecca S. Greenleaf [États-Unis] ; Melissa A. Barger [États-Unis] ; Lane J. Mahoney [États-Unis] ; Peter B. Kang [États-Unis] ; Edmar Zanoteli [Brésil] ; John Vissing [Danemark] ; Nanna Witting [Danemark] ; Andoni Echaniz-Laguna [France] ; Carina Wallgren-Pettersson [Finlande] ; James Dowling [États-Unis] ; Luciano Merlini [Italie] ; Anders Oldfors [Suède] ; Lilian Bomme Ousager [Danemark] ; Judith Melki [France] ; Amanda Krause [Afrique du Sud] ; Christina Jern [Suède] ; Acary S. B. Oliveira [Brésil] ; Florence Petit [France] ; Aurélia Jacquette [France] ; Annabelle Chaussenot [France] ; David Mowat [Australie] ; Bruno Leheup [France] ; Michele Cristofano [Italie] ; Juan José Poza Aldea [Espagne] ; Fabrice Michel [France] ; Alain Furby [France] ; Jose E. Barcena Llona [Espagne] ; Rudy Van Coster [Belgique] ; Enrico Bertini [Italie] ; Jon Andoni Urtizberea [France] ; Valérie Drouin-Garraud [France] ; Christophe Béroud [France] ; Bernard Prudhon [France] ; Melanie Bedford [Canada] ; Katherine Mathews [États-Unis] ; Lori A. H. Erby [États-Unis] ; Stephen A. Smith [États-Unis] ; Jennifer Roggenbuck [États-Unis] ; Carol A. Crowe [États-Unis] ; Allison Brennan Spitale [États-Unis] ; Sheila C. Johal [États-Unis] ; Anthony A. Amato [États-Unis] ; Laurie A. Demmer [États-Unis] ; Jessica Jonas [États-Unis] ; Basil T. Darras [États-Unis] ; Thomas D. Bird [États-Unis] ; Mercy Laurino [États-Unis] ; Selman I. Welt [États-Unis] ; Cynthia Trotter [États-Unis] ; Pascale Guicheney [France] ; Soma Das [États-Unis] ; Jean-Louis Mandel [France] ; Alan H. Beggs [États-Unis] ; Jocelyn Laporte [France]Source :
- Human Mutation [ 1059-7794 ] ; 2012-06.
Descripteurs français
- Wicri :
- topic : Base de données, Génétique, Neurologie.
English descriptors
- KwdEn :
- Adcnm, Biol, Bitoun, Centralized nuclei, Centronuclear, Centronuclear myopathy, Database, Deletion, Diffuse muscle weakness, Disease onset, Disord, Distal muscle weakness, Dnm2, Dnm2 mutation, Dnm2 mutations, Dynamin, Exon, Facial weakness, Genetics, Genetique, Gtpase, Gtpase domain, Guicheney, Human mutation, Intrafamilial variability, Laporte, Linker, Missense, Motor milestones, Movement defects, Muscle weakness, Mutation, Myopathy, Ndings, Neonatal, Neonatal onset, Neurology, Neuromuscul, Neuropathy, Phenotype, Ptosis, Romero, Splice, Susman, Tendon, Zuchner.
- Teeft :
- Adcnm, Biol, Bitoun, Centralized nuclei, Centronuclear, Centronuclear myopathy, Database, Deletion, Diffuse muscle weakness, Disease onset, Disord, Distal muscle weakness, Dnm2, Dnm2 mutation, Dnm2 mutations, Dynamin, Exon, Facial weakness, Genetics, Genetique, Gtpase, Gtpase domain, Guicheney, Human mutation, Intrafamilial variability, Laporte, Linker, Missense, Motor milestones, Movement defects, Muscle weakness, Mutation, Myopathy, Ndings, Neonatal, Neonatal onset, Neurology, Neuromuscul, Neuropathy, Phenotype, Ptosis, Romero, Splice, Susman, Tendon, Zuchner.
Abstract
Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM‐related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice‐site mutation. Genotype–phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot–Marie–Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue‐specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33:949–959, 2012. © 2012 Wiley Periodicals, Inc.
Url:
- https://api.istex.fr/document/512F5925312EA623E427D0F4F605CE4D7E00FB9F/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402
DOI: 10.1002/humu.22067
Affiliations:
- Afrique du Sud, Australie, Belgique, Brésil, Canada, Danemark, Espagne, Finlande, France, Italie, Suède, Turquie, États-Unis
- Alsace (région administrative), Auvergne-Rhône-Alpes, Bourgogne-Franche-Comté, Franche-Comté, Gauteng, Grand Est, Hauts-de-France, Hovedstaden, Illinois, Iowa, Languedoc-Roussillon, Latium, Lorraine (région), Maryland, Massachusetts, Michigan, Minnesota, Nord-Pas-de-Calais, Occitanie (région administrative), Ohio, Provence-Alpes-Côte d'Azur, Rhône-Alpes, Tennessee, Texas, Toscane, Uusimaa, Washington (État), État de São Paulo, Île-de-France
- Besançon, Copenhague, Helsinki, Illkirch, Johannesbourg, Lille, Metz, Montpellier, Nancy, Nice, Paris, Pise, Rome, Saint-Étienne, Strasbourg, São Paulo
- Université d'Helsinki, Université de Lorraine, Université de São Paulo, Université du Witwatersrand
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Le document en format XML
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Dechene</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié‐Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Pierson, Christopher R" sort="Pierson, Christopher R" uniqKey="Pierson C" first="Christopher R." last="Pierson">Christopher R. Pierson</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Current Address: Nationwide Children's Hospital, Ohio State University, Columbus</wicri:cityArea></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Karasoy, Hatice" sort="Karasoy, Hatice" uniqKey="Karasoy H" first="Hatice" last="Karasoy">Hatice Karasoy</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Neurology, Ege University School of Medicine, Izmir</wicri:regionArea><wicri:noRegion>Izmir</wicri:noRegion></affiliation></author><author><name sortKey="Dempsey, Melissa A" sort="Dempsey, Melissa A" uniqKey="Dempsey M" first="Melissa A." last="Dempsey">Melissa A. Dempsey</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Human Genetics, The University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Klein, Fabrice" sort="Klein, Fabrice" uniqKey="Klein F" first="Fabrice" last="Klein">Fabrice Klein</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Dondaine, Nicolas" sort="Dondaine, Nicolas" uniqKey="Dondaine N" first="Nicolas" last="Dondaine">Nicolas Dondaine</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Kretz, Christine" sort="Kretz, Christine" uniqKey="Kretz C" first="Christine" last="Kretz">Christine Kretz</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Haumesser, Nicolas" sort="Haumesser, Nicolas" uniqKey="Haumesser N" first="Nicolas" last="Haumesser">Nicolas Haumesser</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Poirson, Claire" sort="Poirson, Claire" uniqKey="Poirson C" first="Claire" last="Poirson">Claire Poirson</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Toussaint, Anne" sort="Toussaint, Anne" uniqKey="Toussaint A" first="Anne" last="Toussaint">Anne Toussaint</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Greenleaf, Rebecca S" sort="Greenleaf, Rebecca S" uniqKey="Greenleaf R" first="Rebecca S." last="Greenleaf">Rebecca S. Greenleaf</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Barger, Melissa A" sort="Barger, Melissa A" uniqKey="Barger M" first="Melissa A." last="Barger">Melissa A. Barger</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Mahoney, Lane J" sort="Mahoney, Lane J" uniqKey="Mahoney L" first="Lane J." last="Mahoney">Lane J. Mahoney</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Kang, Peter B" sort="Kang, Peter B" uniqKey="Kang P" first="Peter B." last="Kang">Peter B. Kang</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Zanoteli, Edmar" sort="Zanoteli, Edmar" uniqKey="Zanoteli E" first="Edmar" last="Zanoteli">Edmar Zanoteli</name><affiliation wicri:level="3"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Vissing, John" sort="Vissing, John" uniqKey="Vissing J" first="John" last="Vissing">John Vissing</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Witting, Nanna" sort="Witting, Nanna" uniqKey="Witting N" first="Nanna" last="Witting">Nanna Witting</name><affiliation wicri:level="3"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Echaniz Aguna, Andoni" sort="Echaniz Aguna, Andoni" uniqKey="Echaniz Aguna A" first="Andoni" last="Echaniz-Laguna">Andoni Echaniz-Laguna</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, Hopital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Wallgren Ettersson, Carina" sort="Wallgren Ettersson, Carina" uniqKey="Wallgren Ettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation wicri:level="1"><country xml:lang="fr">Finlande</country><wicri:regionArea>The Folkhälsan Institute of Genetics, Helsinki</wicri:regionArea><wicri:noRegion>Helsinki</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Medical Genetics, Haartman Institute, University of Helsinki</wicri:regionArea><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName><orgName type="university">Université d'Helsinki</orgName></affiliation></author><author><name sortKey="Dowling, James" sort="Dowling, James" uniqKey="Dowling J" first="James" last="Dowling">James Dowling</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Michigan</region></placeName><wicri:cityArea>Department of Pediatrics, University of Michigan Medical Center, Ann Arbor</wicri:cityArea></affiliation></author><author><name sortKey="Merlini, Luciano" sort="Merlini, Luciano" uniqKey="Merlini L" first="Luciano" last="Merlini">Luciano Merlini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Oldfors, Anders" sort="Oldfors, Anders" uniqKey="Oldfors A" first="Anders" last="Oldfors">Anders Oldfors</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg</wicri:regionArea><wicri:noRegion>Gothenburg</wicri:noRegion></affiliation></author><author><name sortKey="Bomme Ousager, Lilian" sort="Bomme Ousager, Lilian" uniqKey="Bomme Ousager L" first="Lilian" last="Bomme Ousager">Lilian Bomme Ousager</name><affiliation wicri:level="1"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, Odense</wicri:regionArea><wicri:noRegion>Odense</wicri:noRegion></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin‐Bicetre</wicri:regionArea><wicri:noRegion>Le Kremlin‐Bicetre</wicri:noRegion><wicri:noRegion>Le Kremlin‐Bicetre</wicri:noRegion></affiliation></author><author><name sortKey="Krause, Amanda" sort="Krause, Amanda" uniqKey="Krause A" first="Amanda" last="Krause">Amanda Krause</name><affiliation wicri:level="4"><country xml:lang="fr">Afrique du Sud</country><wicri:regionArea>Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg</wicri:regionArea><orgName type="university">Université du Witwatersrand</orgName><placeName><settlement type="city">Johannesbourg</settlement><region type="region" nuts="2">Gauteng</region></placeName></affiliation></author><author><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg</wicri:regionArea><wicri:noRegion>Gothenburg</wicri:noRegion></affiliation></author><author><name sortKey="Oliveira, Acary S B" sort="Oliveira, Acary S B" uniqKey="Oliveira A" first="Acary S. B." last="Oliveira">Acary S. B. Oliveira</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Neurology, Federal University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region><settlement type="city">São Paulo</settlement></placeName><orgName type="university">Université de São Paulo</orgName></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service Génétique, Centre Hospitalier Regional Universitaire, Lille</wicri:regionArea><placeName><region type="region">Hauts-de-France</region><region type="old region">Nord-Pas-de-Calais</region><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurélia" last="Jacquette">Aurélia Jacquette</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department Génétique, GH Pitié‐Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Chaussenot, Annabelle" sort="Chaussenot, Annabelle" uniqKey="Chaussenot A" first="Annabelle" last="Chaussenot">Annabelle Chaussenot</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Nice</settlement></placeName></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department Medical Genetics, Sydney Children's Hospital, Randwick</wicri:regionArea><wicri:noRegion>Randwick</wicri:noRegion></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Lorraine (région)</region><settlement type="city">Nancy</settlement></placeName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Université de Lorraine, Vandoeuvre‐les‐Nancy</wicri:regionArea><orgName type="university">Université de Lorraine</orgName><placeName><settlement type="city">Nancy</settlement><settlement type="city">Metz</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Lorraine (région)</region></placeName></affiliation></author><author><name sortKey="Cristofano, Michele" sort="Cristofano, Michele" uniqKey="Cristofano M" first="Michele" last="Cristofano">Michele Cristofano</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Azienda ospedaliera Pisana, Pisa</wicri:regionArea><placeName><settlement type="city">Pise</settlement><region nuts="2">Toscane</region></placeName></affiliation></author><author><name sortKey="Poza Aldea, Juan Jose" sort="Poza Aldea, Juan Jose" uniqKey="Poza Aldea J" first="Juan José" last="Poza Aldea">Juan José Poza Aldea</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Servicio de Neurologia, Hospital Donostia, San Sebastian</wicri:regionArea><wicri:noRegion>San Sebastian</wicri:noRegion></affiliation></author><author><name sortKey="Michel, Fabrice" sort="Michel, Fabrice" uniqKey="Michel F" first="Fabrice" last="Michel">Fabrice Michel</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuromuscular Investigations and Pathologies, CHU, Besancon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Franche-Comté</region><settlement type="city">Besançon</settlement></placeName></affiliation></author><author><name sortKey="Furby, Alain" sort="Furby, Alain" uniqKey="Furby A" first="Alain" last="Furby">Alain Furby</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie, CHU, Hôpital Nord, Saint Etienne</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Saint-Étienne</settlement></placeName></affiliation></author><author><name sortKey="Llona, Jose E Barcena" sort="Llona, Jose E Barcena" uniqKey="Llona J" first="Jose E. Barcena" last="Llona">Jose E. Barcena Llona</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurologia, Hospital Universitario de Cruces, Baracaldo</wicri:regionArea><wicri:noRegion>Baracaldo</wicri:noRegion></affiliation></author><author><name sortKey="Van Coster, Rudy" sort="Van Coster, Rudy" uniqKey="Van Coster R" first="Rudy" last="Van Coster">Rudy Van Coster</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Pediatric Neurology, Gent University Hospital, Gent</wicri:regionArea><wicri:noRegion>Gent</wicri:noRegion></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Bambino Gesu' Children's Research Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Urtizberea, Jon Andoni" sort="Urtizberea, Jon Andoni" uniqKey="Urtizberea J" first="Jon Andoni" last="Urtizberea">Jon Andoni Urtizberea</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Hôpital Marin, Hendaye</wicri:regionArea><wicri:noRegion>Hendaye</wicri:noRegion><wicri:noRegion>Hendaye</wicri:noRegion></affiliation></author><author><name sortKey="Drouin Arraud, Valerie" sort="Drouin Arraud, Valerie" uniqKey="Drouin Arraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service Génétique, Hôpitaux de Rouen</wicri:regionArea><wicri:noRegion>Hôpitaux de Rouen</wicri:noRegion><wicri:noRegion>Hôpitaux de Rouen</wicri:noRegion></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, INSERM U827, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Prudhon, Bernard" sort="Prudhon, Bernard" uniqKey="Prudhon B" first="Bernard" last="Prudhon">Bernard Prudhon</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié‐Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Bedford, Melanie" sort="Bedford, Melanie" uniqKey="Bedford M" first="Melanie" last="Bedford">Melanie Bedford</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Genetics Programme, North York General Hospital, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Mathews, Katherine" sort="Mathews, Katherine" uniqKey="Mathews K" first="Katherine" last="Mathews">Katherine Mathews</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Iowa</region></placeName><wicri:cityArea>Carver College of Medicine, University of Iowa, Iowa City</wicri:cityArea></affiliation></author><author><name sortKey="Erby, Lori A H" sort="Erby, Lori A H" uniqKey="Erby L" first="Lori A. H." last="Erby">Lori A. H. Erby</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore</wicri:cityArea></affiliation></author><author><name sortKey="Smith, Stephen A" sort="Smith, Stephen A" uniqKey="Smith S" first="Stephen A." last="Smith">Stephen A. Smith</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Hennepin County Medical Center, Minneapolis</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul</wicri:cityArea></affiliation></author><author><name sortKey="Roggenbuck, Jennifer" sort="Roggenbuck, Jennifer" uniqKey="Roggenbuck J" first="Jennifer" last="Roggenbuck">Jennifer Roggenbuck</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Minnesota</region></placeName><wicri:cityArea>Children's Hospitals and Clinics of Minnesota, Minneapolis</wicri:cityArea></affiliation></author><author><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Brennan Spitale, Allison" sort="Brennan Spitale, Allison" uniqKey="Brennan Spitale A" first="Allison" last="Brennan Spitale">Allison Brennan Spitale</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Johal, Sheila C" sort="Johal, Sheila C" uniqKey="Johal S" first="Sheila C." last="Johal">Sheila C. Johal</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Ohio</region></placeName><wicri:cityArea>Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland</wicri:cityArea></affiliation></author><author><name sortKey="Amato, Anthony A" sort="Amato, Anthony A" uniqKey="Amato A" first="Anthony A." last="Amato">Anthony A. Amato</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Demmer, Laurie A" sort="Demmer, Laurie A" uniqKey="Demmer L" first="Laurie A." last="Demmer">Laurie A. Demmer</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Pediatrics, Tufts Medical Center, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Jonas, Jessica" sort="Jonas, Jessica" uniqKey="Jonas J" first="Jessica" last="Jonas">Jessica Jonas</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Pediatrics, Tufts Medical Center, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Darras, Basil T" sort="Darras, Basil T" uniqKey="Darras B" first="Basil T." last="Darras">Basil T. Darras</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Laurino, Mercy" sort="Laurino, Mercy" uniqKey="Laurino M" first="Mercy" last="Laurino">Mercy Laurino</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Washington (État)</region></placeName><wicri:cityArea>Department of Medicine, University of Washington, Seattle</wicri:cityArea></affiliation></author><author><name sortKey="Welt, Selman I" sort="Welt, Selman I" uniqKey="Welt S" first="Selman I." last="Welt">Selman I. Welt</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Tennessee</region></placeName><wicri:cityArea>Current Address: Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City</wicri:cityArea></affiliation></author><author><name sortKey="Trotter, Cynthia" sort="Trotter, Cynthia" uniqKey="Trotter C" first="Cynthia" last="Trotter">Cynthia Trotter</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Texas</region></placeName><wicri:cityArea>Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock</wicri:cityArea></affiliation><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Current Address: Genzyme Genetics, Westborough</wicri:cityArea></affiliation></author><author><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié‐Salpêtrière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Illinois</region></placeName><wicri:cityArea>Human Genetics, The University of Chicago, Chicago</wicri:cityArea></affiliation></author><author><name sortKey="Mandel, Jean Ouis" sort="Mandel, Jean Ouis" uniqKey="Mandel J" first="Jean-Louis" last="Mandel">Jean-Louis Mandel</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Massachusetts</region></placeName><wicri:cityArea>Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston</wicri:cityArea></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale (INSERM) U964, Centre National de la Recherche Scientifique (CNRS) UMR7104, University of Strasbourg, Collège de France, Illkirch</wicri:regionArea><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Correspondence address: Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, F‐67404 Illkirch</wicri:regionArea><placeName><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region><settlement type="city">Illkirch</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="sub">Focus on CNV Detection with Diagnostic Arrays</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">33</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="949">949</biblScope><biblScope unit="page" to="959">959</biblScope><biblScope unit="page-count">11</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-06">2012-06</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adcnm</term><term>Biol</term><term>Bitoun</term><term>Centralized nuclei</term><term>Centronuclear</term><term>Centronuclear myopathy</term><term>Database</term><term>Deletion</term><term>Diffuse muscle weakness</term><term>Disease onset</term><term>Disord</term><term>Distal muscle weakness</term><term>Dnm2</term><term>Dnm2 mutation</term><term>Dnm2 mutations</term><term>Dynamin</term><term>Exon</term><term>Facial weakness</term><term>Genetics</term><term>Genetique</term><term>Gtpase</term><term>Gtpase domain</term><term>Guicheney</term><term>Human mutation</term><term>Intrafamilial variability</term><term>Laporte</term><term>Linker</term><term>Missense</term><term>Motor milestones</term><term>Movement defects</term><term>Muscle weakness</term><term>Mutation</term><term>Myopathy</term><term>Ndings</term><term>Neonatal</term><term>Neonatal onset</term><term>Neurology</term><term>Neuromuscul</term><term>Neuropathy</term><term>Phenotype</term><term>Ptosis</term><term>Romero</term><term>Splice</term><term>Susman</term><term>Tendon</term><term>Zuchner</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Adcnm</term><term>Biol</term><term>Bitoun</term><term>Centralized nuclei</term><term>Centronuclear</term><term>Centronuclear myopathy</term><term>Database</term><term>Deletion</term><term>Diffuse muscle weakness</term><term>Disease onset</term><term>Disord</term><term>Distal muscle weakness</term><term>Dnm2</term><term>Dnm2 mutation</term><term>Dnm2 mutations</term><term>Dynamin</term><term>Exon</term><term>Facial weakness</term><term>Genetics</term><term>Genetique</term><term>Gtpase</term><term>Gtpase domain</term><term>Guicheney</term><term>Human mutation</term><term>Intrafamilial variability</term><term>Laporte</term><term>Linker</term><term>Missense</term><term>Motor milestones</term><term>Movement defects</term><term>Muscle weakness</term><term>Mutation</term><term>Myopathy</term><term>Ndings</term><term>Neonatal</term><term>Neonatal onset</term><term>Neurology</term><term>Neuromuscul</term><term>Neuropathy</term><term>Phenotype</term><term>Ptosis</term><term>Romero</term><term>Splice</term><term>Susman</term><term>Tendon</term><term>Zuchner</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Base de données</term><term>Génétique</term><term>Neurologie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM‐related DNM2 mutations have been described, and here we report 60 additional families encompassing a broad genotypic and phenotypic spectrum. In total, 18 different mutations are reported in 100 families and our cohort harbors nine known and four new mutations, including the first splice‐site mutation. Genotype–phenotype correlation hypotheses are drawn from the published and new data, and allow an efficient screening strategy for molecular diagnosis. In addition to CNM, dissimilar DNM2 mutations are associated with Charcot–Marie–Tooth (CMT) peripheral neuropathy (CMTD1B and CMT2M), suggesting a tissue‐specific impact of the mutations. In this study, we discuss the possible clinical overlap of CNM and CMT, and the biological significance of the respective mutations based on the known functions of dynamin 2 and its protein structure. Defects in membrane trafficking due to DNM2 mutations potentially represent a common pathological mechanism in CNM and CMT. Hum Mutat 33:949–959, 2012. © 2012 Wiley Periodicals, Inc.</div></front></TEI><affiliations><list><country><li>Afrique du Sud</li><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Canada</li><li>Danemark</li><li>Espagne</li><li>Finlande</li><li>France</li><li>Italie</li><li>Suède</li><li>Turquie</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Auvergne-Rhône-Alpes</li><li>Bourgogne-Franche-Comté</li><li>Franche-Comté</li><li>Gauteng</li><li>Grand Est</li><li>Hauts-de-France</li><li>Hovedstaden</li><li>Illinois</li><li>Iowa</li><li>Languedoc-Roussillon</li><li>Latium</li><li>Lorraine (région)</li><li>Maryland</li><li>Massachusetts</li><li>Michigan</li><li>Minnesota</li><li>Nord-Pas-de-Calais</li><li>Occitanie (région administrative)</li><li>Ohio</li><li>Provence-Alpes-Côte d'Azur</li><li>Rhône-Alpes</li><li>Tennessee</li><li>Texas</li><li>Toscane</li><li>Uusimaa</li><li>Washington (État)</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Besançon</li><li>Copenhague</li><li>Helsinki</li><li>Illkirch</li><li>Johannesbourg</li><li>Lille</li><li>Metz</li><li>Montpellier</li><li>Nancy</li><li>Nice</li><li>Paris</li><li>Pise</li><li>Rome</li><li>Saint-Étienne</li><li>Strasbourg</li><li>São Paulo</li></settlement><orgName><li>Université d'Helsinki</li><li>Université de Lorraine</li><li>Université de São Paulo</li><li>Université du Witwatersrand</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Bohm, Johann" sort="Bohm, Johann" uniqKey="Bohm J" first="Johann" last="Böhm">Johann Böhm</name></noRegion><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name><name sortKey="Chaussenot, Annabelle" sort="Chaussenot, Annabelle" uniqKey="Chaussenot A" first="Annabelle" last="Chaussenot">Annabelle Chaussenot</name><name sortKey="Dondaine, Nicolas" sort="Dondaine, Nicolas" uniqKey="Dondaine N" first="Nicolas" last="Dondaine">Nicolas Dondaine</name><name sortKey="Drouin Arraud, Valerie" sort="Drouin Arraud, Valerie" uniqKey="Drouin Arraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><name sortKey="Echaniz Aguna, Andoni" sort="Echaniz Aguna, Andoni" uniqKey="Echaniz Aguna A" first="Andoni" last="Echaniz-Laguna">Andoni Echaniz-Laguna</name><name sortKey="Furby, Alain" sort="Furby, Alain" uniqKey="Furby A" first="Alain" last="Furby">Alain Furby</name><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><name sortKey="Haumesser, Nicolas" sort="Haumesser, Nicolas" uniqKey="Haumesser N" first="Nicolas" last="Haumesser">Nicolas Haumesser</name><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurélia" last="Jacquette">Aurélia Jacquette</name><name sortKey="Klein, Fabrice" sort="Klein, Fabrice" uniqKey="Klein F" first="Fabrice" last="Klein">Fabrice Klein</name><name sortKey="Kretz, Christine" sort="Kretz, Christine" uniqKey="Kretz C" first="Christine" last="Kretz">Christine Kretz</name><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><name sortKey="Mandel, Jean Ouis" sort="Mandel, Jean Ouis" uniqKey="Mandel J" first="Jean-Louis" last="Mandel">Jean-Louis Mandel</name><name sortKey="Mandel, Jean Ouis" sort="Mandel, Jean Ouis" uniqKey="Mandel J" first="Jean-Louis" last="Mandel">Jean-Louis Mandel</name><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><name sortKey="Michel, Fabrice" sort="Michel, Fabrice" uniqKey="Michel F" first="Fabrice" last="Michel">Fabrice Michel</name><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><name sortKey="Poirson, Claire" sort="Poirson, Claire" uniqKey="Poirson C" first="Claire" last="Poirson">Claire Poirson</name><name sortKey="Prudhon, Bernard" sort="Prudhon, Bernard" uniqKey="Prudhon B" first="Bernard" last="Prudhon">Bernard Prudhon</name><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><name sortKey="Toussaint, Anne" sort="Toussaint, Anne" uniqKey="Toussaint A" first="Anne" last="Toussaint">Anne Toussaint</name><name sortKey="Urtizberea, Jon Andoni" sort="Urtizberea, Jon Andoni" uniqKey="Urtizberea J" first="Jon Andoni" last="Urtizberea">Jon Andoni Urtizberea</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Dechene, Elizabeth T" sort="Dechene, Elizabeth T" uniqKey="Dechene E" first="Elizabeth T." last="Dechene">Elizabeth T. Dechene</name></region><name sortKey="Amato, Anthony A" sort="Amato, Anthony A" uniqKey="Amato A" first="Anthony A." last="Amato">Anthony A. Amato</name><name sortKey="Barger, Melissa A" sort="Barger, Melissa A" uniqKey="Barger M" first="Melissa A." last="Barger">Melissa A. Barger</name><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><name sortKey="Bird, Thomas D" sort="Bird, Thomas D" uniqKey="Bird T" first="Thomas D." last="Bird">Thomas D. Bird</name><name sortKey="Brennan Spitale, Allison" sort="Brennan Spitale, Allison" uniqKey="Brennan Spitale A" first="Allison" last="Brennan Spitale">Allison Brennan Spitale</name><name sortKey="Crowe, Carol A" sort="Crowe, Carol A" uniqKey="Crowe C" first="Carol A." last="Crowe">Carol A. Crowe</name><name sortKey="Darras, Basil T" sort="Darras, Basil T" uniqKey="Darras B" first="Basil T." last="Darras">Basil T. Darras</name><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name><name sortKey="Demmer, Laurie A" sort="Demmer, Laurie A" uniqKey="Demmer L" first="Laurie A." last="Demmer">Laurie A. Demmer</name><name sortKey="Dempsey, Melissa A" sort="Dempsey, Melissa A" uniqKey="Dempsey M" first="Melissa A." last="Dempsey">Melissa A. Dempsey</name><name sortKey="Dowling, James" sort="Dowling, James" uniqKey="Dowling J" first="James" last="Dowling">James Dowling</name><name sortKey="Erby, Lori A H" sort="Erby, Lori A H" uniqKey="Erby L" first="Lori A. H." last="Erby">Lori A. H. Erby</name><name sortKey="Erby, Lori A H" sort="Erby, Lori A H" uniqKey="Erby L" first="Lori A. H." last="Erby">Lori A. H. Erby</name><name sortKey="Greenleaf, Rebecca S" sort="Greenleaf, Rebecca S" uniqKey="Greenleaf R" first="Rebecca S." last="Greenleaf">Rebecca S. Greenleaf</name><name sortKey="Johal, Sheila C" sort="Johal, Sheila C" uniqKey="Johal S" first="Sheila C." last="Johal">Sheila C. Johal</name><name sortKey="Jonas, Jessica" sort="Jonas, Jessica" uniqKey="Jonas J" first="Jessica" last="Jonas">Jessica Jonas</name><name sortKey="Kang, Peter B" sort="Kang, Peter B" uniqKey="Kang P" first="Peter B." last="Kang">Peter B. Kang</name><name sortKey="Laurino, Mercy" sort="Laurino, Mercy" uniqKey="Laurino M" first="Mercy" last="Laurino">Mercy Laurino</name><name sortKey="Mahoney, Lane J" sort="Mahoney, Lane J" uniqKey="Mahoney L" first="Lane J." last="Mahoney">Lane J. Mahoney</name><name sortKey="Mathews, Katherine" sort="Mathews, Katherine" uniqKey="Mathews K" first="Katherine" last="Mathews">Katherine Mathews</name><name sortKey="Pierson, Christopher R" sort="Pierson, Christopher R" uniqKey="Pierson C" first="Christopher R." last="Pierson">Christopher R. Pierson</name><name sortKey="Pierson, Christopher R" sort="Pierson, Christopher R" uniqKey="Pierson C" first="Christopher R." last="Pierson">Christopher R. Pierson</name><name sortKey="Roggenbuck, Jennifer" sort="Roggenbuck, Jennifer" uniqKey="Roggenbuck J" first="Jennifer" last="Roggenbuck">Jennifer Roggenbuck</name><name sortKey="Smith, Stephen A" sort="Smith, Stephen A" uniqKey="Smith S" first="Stephen A." last="Smith">Stephen A. Smith</name><name sortKey="Smith, Stephen A" sort="Smith, Stephen A" uniqKey="Smith S" first="Stephen A." last="Smith">Stephen A. Smith</name><name sortKey="Trotter, Cynthia" sort="Trotter, Cynthia" uniqKey="Trotter C" first="Cynthia" last="Trotter">Cynthia Trotter</name><name sortKey="Trotter, Cynthia" sort="Trotter, Cynthia" uniqKey="Trotter C" first="Cynthia" last="Trotter">Cynthia Trotter</name><name sortKey="Welt, Selman I" sort="Welt, Selman I" uniqKey="Welt S" first="Selman I." last="Welt">Selman I. Welt</name><name sortKey="Welt, Selman I" sort="Welt, Selman I" uniqKey="Welt S" first="Selman I." last="Welt">Selman I. Welt</name></country><country name="Turquie"><noRegion><name sortKey="Karasoy, Hatice" sort="Karasoy, Hatice" uniqKey="Karasoy H" first="Hatice" last="Karasoy">Hatice Karasoy</name></noRegion></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="Zanoteli, Edmar" sort="Zanoteli, Edmar" uniqKey="Zanoteli E" first="Edmar" last="Zanoteli">Edmar Zanoteli</name></region><name sortKey="Oliveira, Acary S B" sort="Oliveira, Acary S B" uniqKey="Oliveira A" first="Acary S. B." last="Oliveira">Acary S. B. Oliveira</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Vissing, John" sort="Vissing, John" uniqKey="Vissing J" first="John" last="Vissing">John Vissing</name></region><name sortKey="Bomme Ousager, Lilian" sort="Bomme Ousager, Lilian" uniqKey="Bomme Ousager L" first="Lilian" last="Bomme Ousager">Lilian Bomme Ousager</name><name sortKey="Witting, Nanna" sort="Witting, Nanna" uniqKey="Witting N" first="Nanna" last="Witting">Nanna Witting</name></country><country name="Finlande"><noRegion><name sortKey="Wallgren Ettersson, Carina" sort="Wallgren Ettersson, Carina" uniqKey="Wallgren Ettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name></noRegion><name sortKey="Wallgren Ettersson, Carina" sort="Wallgren Ettersson, Carina" uniqKey="Wallgren Ettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name></country><country name="Italie"><noRegion><name sortKey="Merlini, Luciano" sort="Merlini, Luciano" uniqKey="Merlini L" first="Luciano" last="Merlini">Luciano Merlini</name></noRegion><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><name sortKey="Cristofano, Michele" sort="Cristofano, Michele" uniqKey="Cristofano M" first="Michele" last="Cristofano">Michele Cristofano</name></country><country name="Suède"><noRegion><name sortKey="Oldfors, Anders" sort="Oldfors, Anders" uniqKey="Oldfors A" first="Anders" last="Oldfors">Anders Oldfors</name></noRegion><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name></country><country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Krause, Amanda" sort="Krause, Amanda" uniqKey="Krause A" first="Amanda" last="Krause">Amanda Krause</name></region></country><country name="Australie"><noRegion><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name></noRegion></country><country name="Espagne"><noRegion><name sortKey="Poza Aldea, Juan Jose" sort="Poza Aldea, Juan Jose" uniqKey="Poza Aldea J" first="Juan José" last="Poza Aldea">Juan José Poza Aldea</name></noRegion><name sortKey="Llona, Jose E Barcena" sort="Llona, Jose E Barcena" uniqKey="Llona J" first="Jose E. Barcena" last="Llona">Jose E. Barcena Llona</name></country><country name="Belgique"><noRegion><name sortKey="Van Coster, Rudy" sort="Van Coster, Rudy" uniqKey="Van Coster R" first="Rudy" last="Van Coster">Rudy Van Coster</name></noRegion></country><country name="Canada"><noRegion><name sortKey="Bedford, Melanie" sort="Bedford, Melanie" uniqKey="Bedford M" first="Melanie" last="Bedford">Melanie Bedford</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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