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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy</title><author><name sortKey="Bohm, Johann" sort="Bohm, Johann" uniqKey="Bohm J" first="Johann" last="Böhm">Johann Böhm</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Dechene, Elizabeth T" sort="Dechene, Elizabeth T" uniqKey="Dechene E" first="Elizabeth T." last="Dechene">Elizabeth T. Dechene</name><affiliation><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Karasoy, Hatice" sort="Karasoy, Hatice" uniqKey="Karasoy H" first="Hatice" last="Karasoy">Hatice Karasoy</name><affiliation><nlm:aff id="A5"> Department of Neurology, Ege University School of Medicine, Izmir, Turkey</nlm:aff></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><nlm:aff id="A6"> Human Genetics, The University of Chicago, Chicago, Illinois</nlm:aff></affiliation></author><author><name sortKey="Klein, Fabrice" sort="Klein, Fabrice" uniqKey="Klein F" first="Fabrice" last="Klein">Fabrice Klein</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Dondaine, Nicolas" sort="Dondaine, Nicolas" uniqKey="Dondaine N" first="Nicolas" last="Dondaine">Nicolas Dondaine</name><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Kretz, Christine" sort="Kretz, Christine" uniqKey="Kretz C" first="Christine" last="Kretz">Christine Kretz</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Haumesser, Nicolas" sort="Haumesser, Nicolas" uniqKey="Haumesser N" first="Nicolas" last="Haumesser">Nicolas Haumesser</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Poirson, Claire" sort="Poirson, Claire" uniqKey="Poirson C" first="Claire" last="Poirson">Claire Poirson</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Toussaint, Anne" sort="Toussaint, Anne" uniqKey="Toussaint A" first="Anne" last="Toussaint">Anne Toussaint</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Zanoteli, Edmar" sort="Zanoteli, Edmar" uniqKey="Zanoteli E" first="Edmar" last="Zanoteli">Edmar Zanoteli</name><affiliation><nlm:aff id="A7"> Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Vissing, John" sort="Vissing, John" uniqKey="Vissing J" first="John" last="Vissing">John Vissing</name><affiliation><nlm:aff id="A8"> Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Witting, Nanna" sort="Witting, Nanna" uniqKey="Witting N" first="Nanna" last="Witting">Nanna Witting</name><affiliation><nlm:aff id="A8"> Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Echaniz Laguna, Andoni" sort="Echaniz Laguna, Andoni" uniqKey="Echaniz Laguna A" first="Andoni" last="Echaniz-Laguna">Andoni Echaniz-Laguna</name><affiliation><nlm:aff id="A9"> Department of Neurology, Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="A10"> The Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Dowling, James" sort="Dowling, James" uniqKey="Dowling J" first="James" last="Dowling">James Dowling</name><affiliation><nlm:aff id="A12"> Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Merlini, Luciano" sort="Merlini, Luciano" uniqKey="Merlini L" first="Luciano" last="Merlini">Luciano Merlini</name><affiliation><nlm:aff id="A13"> Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Oldfors, Anders" sort="Oldfors, Anders" uniqKey="Oldfors A" first="Anders" last="Oldfors">Anders Oldfors</name><affiliation><nlm:aff id="A14"> Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ousager, Lilian Bomme" sort="Ousager, Lilian Bomme" uniqKey="Ousager L" first="Lilian Bomme" last="Ousager">Lilian Bomme Ousager</name><affiliation><nlm:aff id="A15"> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="A16"> INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin-Bicetre, France</nlm:aff></affiliation></author><author><name sortKey="Krause, Amanda" sort="Krause, Amanda" uniqKey="Krause A" first="Amanda" last="Krause">Amanda Krause</name><affiliation><nlm:aff id="A17"> Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name><affiliation><nlm:aff id="A18"> Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden</nlm:aff></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><nlm:aff id="A19"> Department of Neurology, Federal University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:aff id="A20"> Service Génétique, Centre Hospitalier Regional Universitaire, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurélia" last="Jacquette">Aurélia Jacquette</name><affiliation><nlm:aff id="A21"> Department Gȩnétique, GH Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chaussenot, Annabelle" sort="Chaussenot, Annabelle" uniqKey="Chaussenot A" first="Annabelle" last="Chaussenot">Annabelle Chaussenot</name><affiliation><nlm:aff id="A22"> Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice, France</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="A23"> Department Medical Genetics, Sydney Children's Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:aff id="A24"> Service de Medecine Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25"> Faculté de Médecine, Université de Lorraine, Vandoeuvre-les-Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Cristofano, Michele" sort="Cristofano, Michele" uniqKey="Cristofano M" first="Michele" last="Cristofano">Michele Cristofano</name><affiliation><nlm:aff id="A26"> Department of Neurology, Azienda ospedaliera Pisana, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Aldea, Juan Jose Poza" sort="Aldea, Juan Jose Poza" uniqKey="Aldea J" first="Juan José Poza" last="Aldea">Juan José Poza Aldea</name><affiliation><nlm:aff id="A27"> Servicio de Neurologia, Hospital Donostia, San Sebastian, Spain</nlm:aff></affiliation></author><author><name sortKey="Michel, Fabrice" sort="Michel, Fabrice" uniqKey="Michel F" first="Fabrice" last="Michel">Fabrice Michel</name><affiliation><nlm:aff id="A28"> Department of Neuromuscular Investigations and Pathologies, CHU, Besancon, France</nlm:aff></affiliation></author><author><name sortKey="Furby, Alain" sort="Furby, Alain" uniqKey="Furby A" first="Alain" last="Furby">Alain Furby</name><affiliation><nlm:aff id="A29"> Service de Neurologie, CHU, Hôpital Nord, Saint Etienne, France</nlm:aff></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><nlm:aff id="A30"> Neurologia, Hospital Universitario de Cruces, Baracaldo, Spain</nlm:aff></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><nlm:aff id="A31"> Pediatric Neurology, Gent University Hospital, Gent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A32"> Department of Neurosciences, Bambino Gesu’ Children's Research Hospital, Rome, Italy</nlm:aff></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><nlm:aff id="A33"> Hôpital Marin, Hendaye, France</nlm:aff></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation><nlm:aff id="A34"> Service Génétique, Hôpitaux de Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="A35"> Laboratoire de Génétique Moléculaire INSERM U827, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Prudhon, Bernard" sort="Prudhon, Bernard" uniqKey="Prudhon B" first="Bernard" last="Prudhon">Bernard Prudhon</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bedford, Melanie" sort="Bedford, Melanie" uniqKey="Bedford M" first="Melanie" last="Bedford">Melanie Bedford</name><affiliation><nlm:aff id="A36"> Genetics Programme, North York General Hospital, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Mathews, Katherine" sort="Mathews, Katherine" uniqKey="Mathews K" first="Katherine" last="Mathews">Katherine Mathews</name><affiliation><nlm:aff id="A37"> Carver College of Medicine, University of Iowa, Iowa City, Iowa</nlm:aff></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><nlm:aff id="A38"> Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland</nlm:aff></affiliation><affiliation><nlm:aff id="A39"> Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore, Maryland</nlm:aff></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><nlm:aff id="A40"> Hennepin County Medical Center, Minneapolis, Minnesota</nlm:aff></affiliation><affiliation><nlm:aff id="A41"> Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul, Minnesota</nlm:aff></affiliation></author><author><name sortKey="Roggenbuck, Jennifer" sort="Roggenbuck, Jennifer" uniqKey="Roggenbuck J" first="Jennifer" last="Roggenbuck">Jennifer Roggenbuck</name><affiliation><nlm:aff id="A42"> Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota</nlm:aff></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><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></affiliation></author><author><name sortKey="Spitale, Allison Brennan" sort="Spitale, Allison Brennan" uniqKey="Spitale A" first="Allison Brennan" last="Spitale">Allison Brennan Spitale</name><affiliation><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></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><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></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><nlm:aff id="A44"> Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A45"> Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Jonas, Jessica" sort="Jonas, Jessica" uniqKey="Jonas J" first="Jessica" last="Jonas">Jessica Jonas</name><affiliation><nlm:aff id="A45"> Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A46"> Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A47"> Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle, Washington</nlm:aff></affiliation></author><author><name sortKey="Laurino, Mercy" sort="Laurino, Mercy" uniqKey="Laurino M" first="Mercy" last="Laurino">Mercy Laurino</name><affiliation><nlm:aff id="A48"> Department of Medicine, University of Washington, Seattle, Washington</nlm:aff></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><nlm:aff id="A49"> Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas</nlm:aff></affiliation></author><author><name sortKey="Trotter, Cynthia" sort="Trotter, Cynthia" uniqKey="Trotter C" first="Cynthia" last="Trotter">Cynthia Trotter</name><affiliation><nlm:aff id="A49"> Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas</nlm:aff></affiliation></author><author><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name><affiliation><nlm:aff id="A6"> Human Genetics, The University of Chicago, Chicago, Illinois</nlm:aff></affiliation></author><author><name sortKey="Mandel, Jean Louis" sort="Mandel, Jean Louis" uniqKey="Mandel J" first="Jean-Louis" last="Mandel">Jean-Louis Mandel</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22396310</idno><idno type="pmc">3374402</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402</idno><idno type="RBID">PMC:3374402</idno><idno type="doi">10.1002/humu.22067</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">002112</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002112</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy</title><author><name sortKey="Bohm, Johann" sort="Bohm, Johann" uniqKey="Bohm J" first="Johann" last="Böhm">Johann Böhm</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Biancalana, Valerie" sort="Biancalana, Valerie" uniqKey="Biancalana V" first="Valérie" last="Biancalana">Valérie Biancalana</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Dechene, Elizabeth T" sort="Dechene, Elizabeth T" uniqKey="Dechene E" first="Elizabeth T." last="Dechene">Elizabeth T. Dechene</name><affiliation><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Bitoun, Marc" sort="Bitoun, Marc" uniqKey="Bitoun M" first="Marc" last="Bitoun">Marc Bitoun</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Schaefer, Elise" sort="Schaefer, Elise" uniqKey="Schaefer E" first="Elise" last="Schaefer">Elise Schaefer</name><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Karasoy, Hatice" sort="Karasoy, Hatice" uniqKey="Karasoy H" first="Hatice" last="Karasoy">Hatice Karasoy</name><affiliation><nlm:aff id="A5"> Department of Neurology, Ege University School of Medicine, Izmir, Turkey</nlm:aff></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><nlm:aff id="A6"> Human Genetics, The University of Chicago, Chicago, Illinois</nlm:aff></affiliation></author><author><name sortKey="Klein, Fabrice" sort="Klein, Fabrice" uniqKey="Klein F" first="Fabrice" last="Klein">Fabrice Klein</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Dondaine, Nicolas" sort="Dondaine, Nicolas" uniqKey="Dondaine N" first="Nicolas" last="Dondaine">Nicolas Dondaine</name><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Kretz, Christine" sort="Kretz, Christine" uniqKey="Kretz C" first="Christine" last="Kretz">Christine Kretz</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Haumesser, Nicolas" sort="Haumesser, Nicolas" uniqKey="Haumesser N" first="Nicolas" last="Haumesser">Nicolas Haumesser</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Poirson, Claire" sort="Poirson, Claire" uniqKey="Poirson C" first="Claire" last="Poirson">Claire Poirson</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author><author><name sortKey="Toussaint, Anne" sort="Toussaint, Anne" uniqKey="Toussaint A" first="Anne" last="Toussaint">Anne Toussaint</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Zanoteli, Edmar" sort="Zanoteli, Edmar" uniqKey="Zanoteli E" first="Edmar" last="Zanoteli">Edmar Zanoteli</name><affiliation><nlm:aff id="A7"> Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Vissing, John" sort="Vissing, John" uniqKey="Vissing J" first="John" last="Vissing">John Vissing</name><affiliation><nlm:aff id="A8"> Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Witting, Nanna" sort="Witting, Nanna" uniqKey="Witting N" first="Nanna" last="Witting">Nanna Witting</name><affiliation><nlm:aff id="A8"> Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</nlm:aff></affiliation></author><author><name sortKey="Echaniz Laguna, Andoni" sort="Echaniz Laguna, Andoni" uniqKey="Echaniz Laguna A" first="Andoni" last="Echaniz-Laguna">Andoni Echaniz-Laguna</name><affiliation><nlm:aff id="A9"> Department of Neurology, Hopital Civil, Strasbourg, France</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="A10"> The Folkhälsan Institute of Genetics, Helsinki, Finland</nlm:aff></affiliation><affiliation><nlm:aff id="A11"> Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</nlm:aff></affiliation></author><author><name sortKey="Dowling, James" sort="Dowling, James" uniqKey="Dowling J" first="James" last="Dowling">James Dowling</name><affiliation><nlm:aff id="A12"> Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan</nlm:aff></affiliation></author><author><name sortKey="Merlini, Luciano" sort="Merlini, Luciano" uniqKey="Merlini L" first="Luciano" last="Merlini">Luciano Merlini</name><affiliation><nlm:aff id="A13"> Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna, Italy</nlm:aff></affiliation></author><author><name sortKey="Oldfors, Anders" sort="Oldfors, Anders" uniqKey="Oldfors A" first="Anders" last="Oldfors">Anders Oldfors</name><affiliation><nlm:aff id="A14"> Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Ousager, Lilian Bomme" sort="Ousager, Lilian Bomme" uniqKey="Ousager L" first="Lilian Bomme" last="Ousager">Lilian Bomme Ousager</name><affiliation><nlm:aff id="A15"> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="A16"> INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin-Bicetre, France</nlm:aff></affiliation></author><author><name sortKey="Krause, Amanda" sort="Krause, Amanda" uniqKey="Krause A" first="Amanda" last="Krause">Amanda Krause</name><affiliation><nlm:aff id="A17"> Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Jern, Christina" sort="Jern, Christina" uniqKey="Jern C" first="Christina" last="Jern">Christina Jern</name><affiliation><nlm:aff id="A18"> Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden</nlm:aff></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><nlm:aff id="A19"> Department of Neurology, Federal University of São Paulo, São Paulo, Brazil</nlm:aff></affiliation></author><author><name sortKey="Petit, Florence" sort="Petit, Florence" uniqKey="Petit F" first="Florence" last="Petit">Florence Petit</name><affiliation><nlm:aff id="A20"> Service Génétique, Centre Hospitalier Regional Universitaire, Lille, France</nlm:aff></affiliation></author><author><name sortKey="Jacquette, Aurelia" sort="Jacquette, Aurelia" uniqKey="Jacquette A" first="Aurélia" last="Jacquette">Aurélia Jacquette</name><affiliation><nlm:aff id="A21"> Department Gȩnétique, GH Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Chaussenot, Annabelle" sort="Chaussenot, Annabelle" uniqKey="Chaussenot A" first="Annabelle" last="Chaussenot">Annabelle Chaussenot</name><affiliation><nlm:aff id="A22"> Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice, France</nlm:aff></affiliation></author><author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name><affiliation><nlm:aff id="A23"> Department Medical Genetics, Sydney Children's Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Leheup, Bruno" sort="Leheup, Bruno" uniqKey="Leheup B" first="Bruno" last="Leheup">Bruno Leheup</name><affiliation><nlm:aff id="A24"> Service de Medecine Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25"> Faculté de Médecine, Université de Lorraine, Vandoeuvre-les-Nancy, France</nlm:aff></affiliation></author><author><name sortKey="Cristofano, Michele" sort="Cristofano, Michele" uniqKey="Cristofano M" first="Michele" last="Cristofano">Michele Cristofano</name><affiliation><nlm:aff id="A26"> Department of Neurology, Azienda ospedaliera Pisana, Pisa, Italy</nlm:aff></affiliation></author><author><name sortKey="Aldea, Juan Jose Poza" sort="Aldea, Juan Jose Poza" uniqKey="Aldea J" first="Juan José Poza" last="Aldea">Juan José Poza Aldea</name><affiliation><nlm:aff id="A27"> Servicio de Neurologia, Hospital Donostia, San Sebastian, Spain</nlm:aff></affiliation></author><author><name sortKey="Michel, Fabrice" sort="Michel, Fabrice" uniqKey="Michel F" first="Fabrice" last="Michel">Fabrice Michel</name><affiliation><nlm:aff id="A28"> Department of Neuromuscular Investigations and Pathologies, CHU, Besancon, France</nlm:aff></affiliation></author><author><name sortKey="Furby, Alain" sort="Furby, Alain" uniqKey="Furby A" first="Alain" last="Furby">Alain Furby</name><affiliation><nlm:aff id="A29"> Service de Neurologie, CHU, Hôpital Nord, Saint Etienne, France</nlm:aff></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><nlm:aff id="A30"> Neurologia, Hospital Universitario de Cruces, Baracaldo, Spain</nlm:aff></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><nlm:aff id="A31"> Pediatric Neurology, Gent University Hospital, Gent, Belgium</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="A32"> Department of Neurosciences, Bambino Gesu’ Children's Research Hospital, Rome, Italy</nlm:aff></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><nlm:aff id="A33"> Hôpital Marin, Hendaye, France</nlm:aff></affiliation></author><author><name sortKey="Drouin Garraud, Valerie" sort="Drouin Garraud, Valerie" uniqKey="Drouin Garraud V" first="Valérie" last="Drouin-Garraud">Valérie Drouin-Garraud</name><affiliation><nlm:aff id="A34"> Service Génétique, Hôpitaux de Rouen, France</nlm:aff></affiliation></author><author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Béroud">Christophe Béroud</name><affiliation><nlm:aff id="A35"> Laboratoire de Génétique Moléculaire INSERM U827, Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Prudhon, Bernard" sort="Prudhon, Bernard" uniqKey="Prudhon B" first="Bernard" last="Prudhon">Bernard Prudhon</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Bedford, Melanie" sort="Bedford, Melanie" uniqKey="Bedford M" first="Melanie" last="Bedford">Melanie Bedford</name><affiliation><nlm:aff id="A36"> Genetics Programme, North York General Hospital, Toronto, Canada</nlm:aff></affiliation></author><author><name sortKey="Mathews, Katherine" sort="Mathews, Katherine" uniqKey="Mathews K" first="Katherine" last="Mathews">Katherine Mathews</name><affiliation><nlm:aff id="A37"> Carver College of Medicine, University of Iowa, Iowa City, Iowa</nlm:aff></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><nlm:aff id="A38"> Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland</nlm:aff></affiliation><affiliation><nlm:aff id="A39"> Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore, Maryland</nlm:aff></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><nlm:aff id="A40"> Hennepin County Medical Center, Minneapolis, Minnesota</nlm:aff></affiliation><affiliation><nlm:aff id="A41"> Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul, Minnesota</nlm:aff></affiliation></author><author><name sortKey="Roggenbuck, Jennifer" sort="Roggenbuck, Jennifer" uniqKey="Roggenbuck J" first="Jennifer" last="Roggenbuck">Jennifer Roggenbuck</name><affiliation><nlm:aff id="A42"> Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota</nlm:aff></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><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></affiliation></author><author><name sortKey="Spitale, Allison Brennan" sort="Spitale, Allison Brennan" uniqKey="Spitale A" first="Allison Brennan" last="Spitale">Allison Brennan Spitale</name><affiliation><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></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><nlm:aff id="A43"> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</nlm:aff></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><nlm:aff id="A44"> Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A45"> Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Jonas, Jessica" sort="Jonas, Jessica" uniqKey="Jonas J" first="Jessica" last="Jonas">Jessica Jonas</name><affiliation><nlm:aff id="A45"> Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A46"> Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></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><nlm:aff id="A47"> Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle, Washington</nlm:aff></affiliation></author><author><name sortKey="Laurino, Mercy" sort="Laurino, Mercy" uniqKey="Laurino M" first="Mercy" last="Laurino">Mercy Laurino</name><affiliation><nlm:aff id="A48"> Department of Medicine, University of Washington, Seattle, Washington</nlm:aff></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><nlm:aff id="A49"> Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas</nlm:aff></affiliation></author><author><name sortKey="Trotter, Cynthia" sort="Trotter, Cynthia" uniqKey="Trotter C" first="Cynthia" last="Trotter">Cynthia Trotter</name><affiliation><nlm:aff id="A49"> Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas</nlm:aff></affiliation></author><author><name sortKey="Guicheney, Pascale" sort="Guicheney, Pascale" uniqKey="Guicheney P" first="Pascale" last="Guicheney">Pascale Guicheney</name><affiliation><nlm:aff id="A4"> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Das, Soma" sort="Das, Soma" uniqKey="Das S" first="Soma" last="Das">Soma Das</name><affiliation><nlm:aff id="A6"> Human Genetics, The University of Chicago, Chicago, Illinois</nlm:aff></affiliation></author><author><name sortKey="Mandel, Jean Louis" sort="Mandel, Jean Louis" uniqKey="Mandel J" first="Jean-Louis" last="Mandel">Jean-Louis Mandel</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2"> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</nlm:aff></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><nlm:aff id="A3"> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="A1"> 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, France</nlm:aff></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P4">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 (<italic>DNM2</italic>), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related <italic>DNM2</italic> 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 <italic>DNM2</italic> 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 <italic>DNM2</italic> mutations potentially represent a common pathological mechanism in CNM and CMT.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9215429</journal-id><journal-id journal-id-type="pubmed-jr-id">2408</journal-id><journal-id journal-id-type="nlm-ta">Hum Mutat</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mutat.</journal-id><journal-title-group><journal-title>Human mutation</journal-title></journal-title-group><issn pub-type="ppub">1059-7794</issn><issn pub-type="epub">1098-1004</issn></journal-meta><article-meta><article-id pub-id-type="pmid">22396310</article-id><article-id pub-id-type="pmc">3374402</article-id><article-id pub-id-type="doi">10.1002/humu.22067</article-id><article-id pub-id-type="manuscript">NIHMS380208</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutation Spectrum in the Large GTPase Dynamin 2, and Genotype–Phenotype Correlation in Autosomal Dominant Centronuclear Myopathy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Böhm</surname><given-names>Johann</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Biancalana</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>DeChene</surname><given-names>Elizabeth T.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Bitoun</surname><given-names>Marc</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Pierson</surname><given-names>Christopher R.</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Schaefer</surname><given-names>Elise</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Karasoy</surname><given-names>Hatice</given-names></name><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Dempsey</surname><given-names>Melissa A.</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Klein</surname><given-names>Fabrice</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Dondaine</surname><given-names>Nicolas</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Kretz</surname><given-names>Christine</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Haumesser</surname><given-names>Nicolas</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Poirson</surname><given-names>Claire</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Toussaint</surname><given-names>Anne</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Greenleaf</surname><given-names>Rebecca S.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Barger</surname><given-names>Melissa A.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Mahoney</surname><given-names>Lane J.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Kang</surname><given-names>Peter B.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Zanoteli</surname><given-names>Edmar</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Vissing</surname><given-names>John</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Witting</surname><given-names>Nanna</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Echaniz-Laguna</surname><given-names>Andoni</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Wallgren-Pettersson</surname><given-names>Carina</given-names></name><xref ref-type="aff" rid="A10">10</xref><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Dowling</surname><given-names>James</given-names></name><xref ref-type="aff" rid="A12">12</xref></contrib><contrib contrib-type="author"><name><surname>Merlini</surname><given-names>Luciano</given-names></name><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Oldfors</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Ousager</surname><given-names>Lilian Bomme</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Melki</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Krause</surname><given-names>Amanda</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Jern</surname><given-names>Christina</given-names></name><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Oliveira</surname><given-names>Acary S. B.</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Petit</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Jacquette</surname><given-names>Aurélia</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Chaussenot</surname><given-names>Annabelle</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Mowat</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Leheup</surname><given-names>Bruno</given-names></name><xref ref-type="aff" rid="A24">24</xref><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Cristofano</surname><given-names>Michele</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Aldea</surname><given-names>Juan José Poza</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Michel</surname><given-names>Fabrice</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Furby</surname><given-names>Alain</given-names></name><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Llona</surname><given-names>Jose E. Barcena</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Van Coster</surname><given-names>Rudy</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Urtizberea</surname><given-names>Jon Andoni</given-names></name><xref ref-type="aff" rid="A33">33</xref></contrib><contrib contrib-type="author"><name><surname>Drouin-Garraud</surname><given-names>Valérie</given-names></name><xref ref-type="aff" rid="A34">34</xref></contrib><contrib contrib-type="author"><name><surname>Béroud</surname><given-names>Christophe</given-names></name><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Prudhon</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Bedford</surname><given-names>Melanie</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Mathews</surname><given-names>Katherine</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Erby</surname><given-names>Lori A. H.</given-names></name><xref ref-type="aff" rid="A38">38</xref><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Smith</surname><given-names>Stephen A.</given-names></name><xref ref-type="aff" rid="A40">40</xref><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Roggenbuck</surname><given-names>Jennifer</given-names></name><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Crowe</surname><given-names>Carol A.</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Spitale</surname><given-names>Allison Brennan</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Johal</surname><given-names>Sheila C.</given-names></name><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Amato</surname><given-names>Anthony A.</given-names></name><xref ref-type="aff" rid="A44">44</xref></contrib><contrib contrib-type="author"><name><surname>Demmer</surname><given-names>Laurie A.</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Jonas</surname><given-names>Jessica</given-names></name><xref ref-type="aff" rid="A45">45</xref></contrib><contrib contrib-type="author"><name><surname>Darras</surname><given-names>Basil T.</given-names></name><xref ref-type="aff" rid="A46">46</xref></contrib><contrib contrib-type="author"><name><surname>Bird</surname><given-names>Thomas D.</given-names></name><xref ref-type="aff" rid="A47">47</xref></contrib><contrib contrib-type="author"><name><surname>Laurino</surname><given-names>Mercy</given-names></name><xref ref-type="aff" rid="A48">48</xref></contrib><contrib contrib-type="author"><name><surname>Welt</surname><given-names>Selman I.</given-names></name><xref ref-type="aff" rid="A49">49</xref><xref ref-type="author-notes" rid="FN2">‡</xref></contrib><contrib contrib-type="author"><name><surname>Trotter</surname><given-names>Cynthia</given-names></name><xref ref-type="aff" rid="A49">49</xref><xref ref-type="author-notes" rid="FN3">§</xref></contrib><contrib contrib-type="author"><name><surname>Guicheney</surname><given-names>Pascale</given-names></name><xref ref-type="aff" rid="A4">4</xref></contrib><contrib contrib-type="author"><name><surname>Das</surname><given-names>Soma</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Mandel</surname><given-names>Jean-Louis</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Laporte</surname><given-names>Jocelyn</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="corresp" rid="CR1">*</xref></contrib></contrib-group><aff id="A1"><label>1</label> 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, France</aff><aff id="A2"><label>2</label> Faculté de Médecine, Laboratoire de Diagnostic Génétique, Nouvel Hopital Civil, Strasbourg, France</aff><aff id="A3"><label>3</label> Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</aff><aff id="A4"><label>4</label> Institut de Myologie, INSERM U974, University Pierre et Marie Curie UM76, CNRS UMR7215, Groupe Hospitalier Pitié-Salpêtrière, Paris, France</aff><aff id="A5"><label>5</label> Department of Neurology, Ege University School of Medicine, Izmir, Turkey</aff><aff id="A6"><label>6</label> Human Genetics, The University of Chicago, Chicago, Illinois</aff><aff id="A7"><label>7</label> Department of Neurology, Medical School of the University of Sao Paulo Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil</aff><aff id="A8"><label>8</label> Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark</aff><aff id="A9"><label>9</label> Department of Neurology, Hopital Civil, Strasbourg, France</aff><aff id="A10"><label>10</label> The Folkhälsan Institute of Genetics, Helsinki, Finland</aff><aff id="A11"><label>11</label> Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland</aff><aff id="A12"><label>12</label> Department of Pediatrics, University of Michigan Medical Center, Ann Arbor, Michigan</aff><aff id="A13"><label>13</label> Laboratory of Musculoskeletal Cell Biology, Instituto Ortopedico Rizzoli, Bologna, Italy</aff><aff id="A14"><label>14</label> Institute of Biomedicine, Sahlgrenska University Hospital, Gothenburg, Sweden</aff><aff id="A15"><label>15</label> Department of Clinical Genetics, Odense University Hospital, Odense, Denmark</aff><aff id="A16"><label>16</label> INSERM UMR788, University Paris 11, Hôpital du Kremlin Bicetre, Le Kremlin-Bicetre, France</aff><aff id="A17"><label>17</label> Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand, Johannesburg, South Africa</aff><aff id="A18"><label>18</label> Institute of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden</aff><aff id="A19"><label>19</label> Department of Neurology, Federal University of São Paulo, São Paulo, Brazil</aff><aff id="A20"><label>20</label> Service Génétique, Centre Hospitalier Regional Universitaire, Lille, France</aff><aff id="A21"><label>21</label> Department Gȩnétique, GH Pitié-Salpêtrière, Paris, France</aff><aff id="A22"><label>22</label> Service Génétique Médicale, Centre Hospitalier Universitaire Nice, Nice, France</aff><aff id="A23"><label>23</label> Department Medical Genetics, Sydney Children's Hospital, Randwick, Australia</aff><aff id="A24"><label>24</label> Service de Medecine Médecine Infantile III et Génétique Clinique, CHU de Nancy, Nancy, France</aff><aff id="A25"><label>25</label> Faculté de Médecine, Université de Lorraine, Vandoeuvre-les-Nancy, France</aff><aff id="A26"><label>26</label> Department of Neurology, Azienda ospedaliera Pisana, Pisa, Italy</aff><aff id="A27"><label>27</label> Servicio de Neurologia, Hospital Donostia, San Sebastian, Spain</aff><aff id="A28"><label>28</label> Department of Neuromuscular Investigations and Pathologies, CHU, Besancon, France</aff><aff id="A29"><label>29</label> Service de Neurologie, CHU, Hôpital Nord, Saint Etienne, France</aff><aff id="A30"><label>30</label> Neurologia, Hospital Universitario de Cruces, Baracaldo, Spain</aff><aff id="A31"><label>31</label> Pediatric Neurology, Gent University Hospital, Gent, Belgium</aff><aff id="A32"><label>32</label> Department of Neurosciences, Bambino Gesu’ Children's Research Hospital, Rome, Italy</aff><aff id="A33"><label>33</label> Hôpital Marin, Hendaye, France</aff><aff id="A34"><label>34</label> Service Génétique, Hôpitaux de Rouen, France</aff><aff id="A35"><label>35</label> Laboratoire de Génétique Moléculaire INSERM U827, Montpellier, France</aff><aff id="A36"><label>36</label> Genetics Programme, North York General Hospital, Toronto, Canada</aff><aff id="A37"><label>37</label> Carver College of Medicine, University of Iowa, Iowa City, Iowa</aff><aff id="A38"><label>38</label> Department of Health, Behavior and Society, The Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland</aff><aff id="A39"><label>39</label> Department of Neurology and Neurosurgery, The John Hopkins School of Medicine, Baltimore, Maryland</aff><aff id="A40"><label>40</label> Hennepin County Medical Center, Minneapolis, Minnesota</aff><aff id="A41"><label>41</label> Department of Neurology, Gillette Children's Specialty Healthcare, Saint Paul, Minnesota</aff><aff id="A42"><label>42</label> Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota</aff><aff id="A43"><label>43</label> Division of Genetics, MetroHealth Medical Centers, Case Western Reserve University School of Medicine, Cleveland, Ohio</aff><aff id="A44"><label>44</label> Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts</aff><aff id="A45"><label>45</label> Department of Pediatrics, Tufts Medical Center, Boston, Massachusetts</aff><aff id="A46"><label>46</label> Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts</aff><aff id="A47"><label>47</label> Departments of Neurology and Medicine, University of Washington and VA Medical Center, Seattle, Washington</aff><aff id="A48"><label>48</label> Department of Medicine, University of Washington, Seattle, Washington</aff><aff id="A49"><label>49</label> Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas</aff><author-notes><fn fn-type="present-address" id="FN1"><label>†</label><p id="P1">Current address: Nationwide Children's Hospital, Ohio State University, Columbus, Ohio.</p></fn><fn fn-type="present-address" id="FN2"><label>‡</label><p id="P2">Current address: Department of Obstetrics and Gynecology, Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee.</p></fn><fn fn-type="present-address" id="FN3"><label>§</label><p id="P3">Current address: Genzyme Genetics, Westborough, Massachusetts.</p></fn><corresp id="CR1"><label>*</label>Correspondence to: Jocelyn Laporte, Institut de Génétique et de Biologie Moléculaire et Cellulaire, 1 rue Laurent Fries, F-67404 Illkirch, France. <email>jocelyn@igbmc.fr</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>25</day><month>5</month><year>2012</year></pub-date><pub-date pub-type="epub"><day>04</day><month>4</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>6</month><year>2012</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>6</month><year>2013</year></pub-date><volume>33</volume><issue>6</issue><fpage>949</fpage><lpage>959</lpage><permissions><copyright-statement>© 2012 WILEY PERIODICALS, INC.</copyright-statement><copyright-year>2012</copyright-year></permissions><abstract><p id="P4">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 (<italic>DNM2</italic>), a mechanochemical enzyme regulating cytoskeleton and membrane trafficking in cells. To date, 40 families with CNM-related <italic>DNM2</italic> 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 <italic>DNM2</italic> 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 <italic>DNM2</italic> mutations potentially represent a common pathological mechanism in CNM and CMT.</p></abstract><kwd-group><kwd>centronuclear myopathy</kwd><kwd>congenital myopathy</kwd><kwd>Charcot–Marie–Tooth neuropathy</kwd><kwd>DNM2</kwd><kwd>ADCNM</kwd><kwd>CMTD1B</kwd><kwd>DI-CMTB</kwd><kwd>CMT2M</kwd><kwd>hereditary motor and sensory neuropathy type II</kwd><kwd>HMSNII</kwd><kwd>MTM1</kwd><kwd>myotubular myopathy</kwd><kwd>BIN1</kwd><kwd>RYR1</kwd><kwd>endocytosis</kwd></kwd-group><funding-group><award-group><funding-source country="United States">National Institute of Arthritis and Musculoskeletal and Skin Diseases : NIAMS</funding-source><award-id>R01 AR044345 || AR</award-id></award-group><award-group><funding-source country="United States">National Institute of Neurological Disorders and Stroke : NINDS</funding-source><award-id>P50 NS040828 || NS</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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