Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Identifieur interne : 003761 ( Main/Exploration ); précédent : 003760; suivant : 003762Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Auteurs : Michaela Yuen [Australie] ; Sarah A. Sandaradura [Australie] ; James J. Dowling [États-Unis, Canada] ; Alla S. Kostyukova [États-Unis] ; Natalia Moroz [États-Unis] ; Kate G. Quinlan [Australie] ; Vilma-Lotta Lehtokari [Finlande] ; Gianina Ravenscroft [Australie] ; Emily J. Todd [Australie] ; Ozge Ceyhan-Birsoy [États-Unis] ; David S. Gokhin [États-Unis] ; Jérome Maluenda [France] ; Monkol Lek [États-Unis] ; Flora Nolent [France] ; Christopher T. Pappas [États-Unis] ; Stefanie M. Novak [États-Unis] ; Adele D Mico [Italie] ; Edoardo Malfatti [France] ; Brett P. Thomas [États-Unis] ; Stacey B. Gabriel [États-Unis] ; Namrata Gupta [États-Unis] ; Mark J. Daly [États-Unis] ; Biljana Ilkovski [Australie] ; Peter J. Houweling [Australie] ; Ann E. Davidson [États-Unis, Canada] ; Lindsay C. Swanson [États-Unis] ; Catherine A. Brownstein [États-Unis] ; Vandana A. Gupta [États-Unis] ; Livija Medne [États-Unis] ; Patrick Shannon [Canada] ; Nicole Martin [Canada] ; David P. Bick [États-Unis] ; Anders Flisberg ; Eva Holmberg [Suède] ; Peter Van Den Bergh [Belgique] ; Pablo Lapunzina [Espagne] ; Leigh B. Waddell [Australie] ; Darcée D. Sloboda [États-Unis] ; Enrico Bertini [Italie] ; David Chitayat [Canada] ; William R. Telfer [États-Unis] ; Annie Laquerrière [France] ; Carol C. Gregorio [États-Unis] ; Coen A. C. Ottenheijm [Pays-Bas] ; Carsten G. Bönnemann [États-Unis] ; Katarina Pelin [Finlande] ; Alan H. Beggs [États-Unis] ; Yukiko K. Hayashi [Japon] ; Norma B. Romero [France] ; Nigel G. Laing [Australie] ; Ichizo Nishino [Japon] ; Carina Wallgren-Pettersson [Finlande] ; Judith Melki [France] ; Velia M. Fowler [États-Unis] ; Daniel G. Macarthur [États-Unis] ; Kathryn N. North [Australie] ; Nigel F. Clarke [Australie]Source :
- The Journal of Clinical Investigation [ 0021-9738 ] ; 2014.
Abstract
Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, we identified homozygous or compound heterozygous variants in
Url:
DOI: 10.1172/JCI75199
PubMed: 25250574
PubMed Central: 4347224
Affiliations:
- Australie, Belgique, Canada, Espagne, Finlande, France, Italie, Japon, Pays-Bas, Suède, États-Unis
- Arizona, Californie, Communauté de Madrid, Haute-Normandie, Hollande-Septentrionale, Latium, Maryland, Massachusetts, Michigan, Nouvelle-Galles du Sud, Ontario, Pennsylvanie, Région Normandie, Région de Bruxelles-Capitale, Région de Kantō, Uusimaa, Victoria (État), Washington (État), Wisconsin, Île-de-France
- Amsterdam, Bruxelles, Helsinki, Madrid, Melbourne, Paris, Rome, Rouen, Sydney, Tokyo, Toronto
- Université d'Helsinki, Université de Melbourne, Université de Sydney, Université de Toronto
Links toward previous steps (curation, corpus...)
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Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy</title><author><name sortKey="Yuen, Michaela" sort="Yuen, Michaela" uniqKey="Yuen M" first="Michaela" last="Yuen">Michaela Yuen</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. Sandaradura</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Kostyukova, Alla S" sort="Kostyukova, Alla S" uniqKey="Kostyukova A" first="Alla S." last="Kostyukova">Alla S. Kostyukova</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Moroz, Natalia" sort="Moroz, Natalia" uniqKey="Moroz N" first="Natalia" last="Moroz">Natalia Moroz</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Quinlan, Kate G" sort="Quinlan, Kate G" uniqKey="Quinlan K" first="Kate G." last="Quinlan">Kate G. Quinlan</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Lehtokari, Vilma Lotta" sort="Lehtokari, Vilma Lotta" uniqKey="Lehtokari V" first="Vilma-Lotta" last="Lehtokari">Vilma-Lotta Lehtokari</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Ceyhan Birsoy, Ozge" sort="Ceyhan Birsoy, Ozge" uniqKey="Ceyhan Birsoy O" first="Ozge" last="Ceyhan-Birsoy">Ozge Ceyhan-Birsoy</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gokhin, David S" sort="Gokhin, David S" uniqKey="Gokhin D" first="David S." last="Gokhin">David S. Gokhin</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Pappas, Christopher T" sort="Pappas, Christopher T" uniqKey="Pappas C" first="Christopher T." last="Pappas">Christopher T. Pappas</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Novak, Stefanie M" sort="Novak, Stefanie M" uniqKey="Novak S" first="Stefanie M." last="Novak">Stefanie M. Novak</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="D Mico, Adele" sort="D Mico, Adele" uniqKey="D Mico A" first="Adele" last="D Mico">Adele D Mico</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Malfatti, Edoardo" sort="Malfatti, Edoardo" uniqKey="Malfatti E" first="Edoardo" last="Malfatti">Edoardo Malfatti</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La 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="Thomas, Brett P" sort="Thomas, Brett P" uniqKey="Thomas B" first="Brett P." last="Thomas">Brett P. Thomas</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gabriel, Stacey B" sort="Gabriel, Stacey B" uniqKey="Gabriel S" first="Stacey B." last="Gabriel">Stacey B. Gabriel</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gupta, Namrata" sort="Gupta, Namrata" uniqKey="Gupta N" first="Namrata" last="Gupta">Namrata Gupta</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Houweling, Peter J" sort="Houweling, Peter J" uniqKey="Houweling P" first="Peter J." last="Houweling">Peter J. Houweling</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Davidson, Ann E" sort="Davidson, Ann E" uniqKey="Davidson A" first="Ann E." last="Davidson">Ann E. Davidson</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Swanson, Lindsay C" sort="Swanson, Lindsay C" uniqKey="Swanson L" first="Lindsay C." last="Swanson">Lindsay C. Swanson</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Brownstein, Catherine A" sort="Brownstein, Catherine A" uniqKey="Brownstein C" first="Catherine A." last="Brownstein">Catherine A. Brownstein</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gupta, Vandana A" sort="Gupta, Vandana A" uniqKey="Gupta V" first="Vandana A." last="Gupta">Vandana A. Gupta</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Shannon, Patrick" sort="Shannon, Patrick" uniqKey="Shannon P" first="Patrick" last="Shannon">Patrick Shannon</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Bick, David P" sort="Bick, David P" uniqKey="Bick D" first="David P." last="Bick">David P. Bick</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Section of Genetics, Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Section of Genetics, Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin</wicri:regionArea><placeName><region type="state">Wisconsin</region></placeName></affiliation></author><author><name sortKey="Flisberg, Anders" sort="Flisberg, Anders" uniqKey="Flisberg A" first="Anders" last="Flisberg">Anders Flisberg</name><affiliation><nlm:aff wicri:cut=" and" id="JCI75199">Department of Neonatology</nlm:aff></affiliation></author><author><name sortKey="Holmberg, Eva" sort="Holmberg, Eva" uniqKey="Holmberg E" first="Eva" last="Holmberg">Eva Holmberg</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg</wicri:regionArea><wicri:noRegion>Göteborg</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels, Belgium.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Belgique</country><wicri:regionArea>Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Spain.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Espagne</country><wicri:regionArea>Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="JCI75199">Universidad Autónoma de Madrid and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Espagne</country><wicri:regionArea>Universidad Autónoma de Madrid and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Waddell, Leigh B" sort="Waddell, Leigh B" uniqKey="Waddell L" first="Leigh B." last="Waddell">Leigh B. Waddell</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Sloboda, Darcee D" sort="Sloboda, Darcee D" uniqKey="Sloboda D" first="Darcée D." last="Sloboda">Darcée D. Sloboda</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Division of Clinical and Medical Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Clinical and Medical Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Telfer, William R" sort="Telfer, William R" uniqKey="Telfer W" first="William R." last="Telfer">William R. Telfer</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Laquerriere, Annie" sort="Laquerriere, Annie" uniqKey="Laquerriere A" first="Annie" last="Laquerrière">Annie Laquerrière</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Gregorio, Carol C" sort="Gregorio, Carol C" uniqKey="Gregorio C" first="Carol C." last="Gregorio">Carol C. Gregorio</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Ottenheijm, Coen A C" sort="Ottenheijm, Coen A C" uniqKey="Ottenheijm C" first="Coen A. C." last="Ottenheijm">Coen A. C. Ottenheijm</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Department of Biosciences, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></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"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neurophysiology, Tokyo Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La 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="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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 wicri:level="4"><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes</wicri:regionArea><wicri:noRegion>Corbeil Essonnes</wicri:noRegion><wicri:noRegion>Corbeil Essonnes</wicri:noRegion></affiliation></author><author><name sortKey="Fowler, Velia M" sort="Fowler, Velia M" uniqKey="Fowler V" first="Velia M." last="Fowler">Velia M. Fowler</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Department of Paediatrics, University of Melbourne, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25250574</idno><idno type="pmc">4347224</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4347224</idno><idno type="RBID">PMC:4347224</idno><idno type="doi">10.1172/JCI75199</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001927</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001927</idno><idno type="wicri:Area/Pmc/Curation">001786</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001786</idno><idno type="wicri:Area/Pmc/Checkpoint">001493</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001493</idno><idno type="wicri:Area/Ncbi/Merge">001E35</idno><idno type="wicri:Area/Ncbi/Curation">001E35</idno><idno type="wicri:Area/Ncbi/Checkpoint">001E35</idno><idno type="wicri:doubleKey">0021-9738:2014:Yuen M:leiomodin:dysfunction:results</idno><idno type="wicri:Area/Main/Merge">003788</idno><idno type="wicri:Area/Main/Curation">003761</idno><idno type="wicri:Area/Main/Exploration">003761</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy</title><author><name sortKey="Yuen, Michaela" sort="Yuen, Michaela" uniqKey="Yuen M" first="Michaela" last="Yuen">Michaela Yuen</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. Sandaradura</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Dowling, James J" sort="Dowling, James J" uniqKey="Dowling J" first="James J." last="Dowling">James J. Dowling</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Kostyukova, Alla S" sort="Kostyukova, Alla S" uniqKey="Kostyukova A" first="Alla S." last="Kostyukova">Alla S. Kostyukova</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Moroz, Natalia" sort="Moroz, Natalia" uniqKey="Moroz N" first="Natalia" last="Moroz">Natalia Moroz</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington</wicri:regionArea><placeName><region type="state">Washington (État)</region></placeName></affiliation></author><author><name sortKey="Quinlan, Kate G" sort="Quinlan, Kate G" uniqKey="Quinlan K" first="Kate G." last="Quinlan">Kate G. Quinlan</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Lehtokari, Vilma Lotta" sort="Lehtokari, Vilma Lotta" uniqKey="Lehtokari V" first="Vilma-Lotta" last="Lehtokari">Vilma-Lotta Lehtokari</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Ceyhan Birsoy, Ozge" sort="Ceyhan Birsoy, Ozge" uniqKey="Ceyhan Birsoy O" first="Ozge" last="Ceyhan-Birsoy">Ozge Ceyhan-Birsoy</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gokhin, David S" sort="Gokhin, David S" uniqKey="Gokhin D" first="David S." last="Gokhin">David S. Gokhin</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Pappas, Christopher T" sort="Pappas, Christopher T" uniqKey="Pappas C" first="Christopher T." last="Pappas">Christopher T. Pappas</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Novak, Stefanie M" sort="Novak, Stefanie M" uniqKey="Novak S" first="Stefanie M." last="Novak">Stefanie M. Novak</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="D Mico, Adele" sort="D Mico, Adele" uniqKey="D Mico A" first="Adele" last="D Mico">Adele D Mico</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Malfatti, Edoardo" sort="Malfatti, Edoardo" uniqKey="Malfatti E" first="Edoardo" last="Malfatti">Edoardo Malfatti</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La 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="Thomas, Brett P" sort="Thomas, Brett P" uniqKey="Thomas B" first="Brett P." last="Thomas">Brett P. Thomas</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gabriel, Stacey B" sort="Gabriel, Stacey B" uniqKey="Gabriel S" first="Stacey B." last="Gabriel">Stacey B. Gabriel</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gupta, Namrata" sort="Gupta, Namrata" uniqKey="Gupta N" first="Namrata" last="Gupta">Namrata Gupta</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Houweling, Peter J" sort="Houweling, Peter J" uniqKey="Houweling P" first="Peter J." last="Houweling">Peter J. Houweling</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation></author><author><name sortKey="Davidson, Ann E" sort="Davidson, Ann E" uniqKey="Davidson A" first="Ann E." last="Davidson">Ann E. Davidson</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Swanson, Lindsay C" sort="Swanson, Lindsay C" uniqKey="Swanson L" first="Lindsay C." last="Swanson">Lindsay C. Swanson</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Brownstein, Catherine A" sort="Brownstein, Catherine A" uniqKey="Brownstein C" first="Catherine A." last="Brownstein">Catherine A. Brownstein</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Gupta, Vandana A" sort="Gupta, Vandana A" uniqKey="Gupta V" first="Vandana A." last="Gupta">Vandana A. Gupta</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Shannon, Patrick" sort="Shannon, Patrick" uniqKey="Shannon P" first="Patrick" last="Shannon">Patrick Shannon</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario</wicri:regionArea><wicri:noRegion>Ontario</wicri:noRegion></affiliation></author><author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Bick, David P" sort="Bick, David P" uniqKey="Bick D" first="David P." last="Bick">David P. Bick</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Section of Genetics, Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Section of Genetics, Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin</wicri:regionArea><placeName><region type="state">Wisconsin</region></placeName></affiliation></author><author><name sortKey="Flisberg, Anders" sort="Flisberg, Anders" uniqKey="Flisberg A" first="Anders" last="Flisberg">Anders Flisberg</name><affiliation><nlm:aff wicri:cut=" and" id="JCI75199">Department of Neonatology</nlm:aff></affiliation></author><author><name sortKey="Holmberg, Eva" sort="Holmberg, Eva" uniqKey="Holmberg E" first="Eva" last="Holmberg">Eva Holmberg</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Suède</country><wicri:regionArea>Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg</wicri:regionArea><wicri:noRegion>Göteborg</wicri:noRegion></affiliation></author><author><name sortKey="Van Den Bergh, Peter" sort="Van Den Bergh, Peter" uniqKey="Van Den Bergh P" first="Peter" last="Van Den Bergh">Peter Van Den Bergh</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels, Belgium.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Belgique</country><wicri:regionArea>Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels</wicri:regionArea><placeName><settlement type="city">Bruxelles</settlement><region nuts="2">Région de Bruxelles-Capitale</region></placeName></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Spain.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Espagne</country><wicri:regionArea>Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="JCI75199">Universidad Autónoma de Madrid and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Espagne</country><wicri:regionArea>Universidad Autónoma de Madrid and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Waddell, Leigh B" sort="Waddell, Leigh B" uniqKey="Waddell L" first="Leigh B." last="Waddell">Leigh B. Waddell</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Sloboda, Darcee D" sort="Sloboda, Darcee D" uniqKey="Sloboda D" first="Darcée D." last="Sloboda">Darcée D. Sloboda</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Italie</country><wicri:regionArea>Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Division of Clinical and Medical Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Canada</country><wicri:regionArea>Division of Clinical and Medical Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario</wicri:regionArea><orgName type="university">Université de Toronto</orgName><placeName><settlement type="city">Toronto</settlement><region type="state">Ontario</region></placeName></affiliation></author><author><name sortKey="Telfer, William R" sort="Telfer, William R" uniqKey="Telfer W" first="William R." last="Telfer">William R. Telfer</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan</wicri:regionArea><placeName><region type="state">Michigan</region></placeName></affiliation></author><author><name sortKey="Laquerriere, Annie" sort="Laquerriere, Annie" uniqKey="Laquerriere A" first="Annie" last="Laquerrière">Annie Laquerrière</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen</wicri:regionArea><placeName><region type="region">Région Normandie</region><region type="old region">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Gregorio, Carol C" sort="Gregorio, Carol C" uniqKey="Gregorio C" first="Carol C." last="Gregorio">Carol C. Gregorio</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona</wicri:regionArea><placeName><region type="state">Arizona</region></placeName></affiliation></author><author><name sortKey="Ottenheijm, Coen A C" sort="Ottenheijm, Coen A C" uniqKey="Ottenheijm C" first="Coen A. C." last="Ottenheijm">Coen A. C. Ottenheijm</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation wicri:level="4"><nlm:aff id="JCI75199">Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Department of Biosciences, University of Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></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"><nlm:aff id="JCI75199">Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neurophysiology, Tokyo Medical University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La 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="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia</wicri:regionArea><wicri:noRegion>Western Australia</wicri:noRegion></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation wicri:level="3"><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Japon</country><wicri:regionArea>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></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 wicri:level="4"><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Finlande</country><wicri:regionArea>Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki</wicri:regionArea><orgName type="university">Université d'Helsinki</orgName><placeName><settlement type="city">Helsinki</settlement><region type="région" nuts="2">Uusimaa</region></placeName></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin-Bicêtre</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France.</nlm:aff><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes</wicri:regionArea><wicri:noRegion>Corbeil Essonnes</wicri:noRegion><wicri:noRegion>Corbeil Essonnes</wicri:noRegion></affiliation></author><author><name sortKey="Fowler, Velia M" sort="Fowler, Velia M" uniqKey="Fowler V" first="Velia M." last="Fowler">Velia M. Fowler</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name><affiliation wicri:level="2"><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation><affiliation wicri:level="2"><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff><country xml:lang="fr" wicri:curation="lc">États-Unis</country><wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts</wicri:regionArea><placeName><region type="state">Massachusetts</region></placeName></affiliation></author><author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria</wicri:regionArea><wicri:noRegion>Victoria</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Department of Paediatrics, University of Melbourne, Victoria, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Department of Paediatrics, University of Melbourne, Victoria</wicri:regionArea><orgName type="university">Université de Melbourne</orgName><placeName><settlement type="city">Melbourne</settlement><region type="état">Victoria (État)</region></placeName></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation wicri:level="1"><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation><affiliation wicri:level="4"><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Australie</country><wicri:regionArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author></analytic><series><title level="j">The Journal of Clinical Investigation</title><idno type="ISSN">0021-9738</idno><idno type="eISSN">1558-8238</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic mutations have been described in 9 genes to date, but the genetic basis remains unknown in many cases. Here, using an approach that combined whole-exome sequencing (WES) and Sanger sequencing, we identified homozygous or compound heterozygous variants in <italic>LMOD3</italic> in 21 patients from 14 families with severe, usually lethal, NM. <italic>LMOD3</italic> encodes leiomodin-3 (LMOD3), a 65-kDa protein expressed in skeletal and cardiac muscle. LMOD3 was expressed from early stages of muscle differentiation; localized to actin thin filaments, with enrichment near the pointed ends; and had strong actin filament-nucleating activity. Loss of LMOD3 in patient muscle resulted in shortening and disorganization of thin filaments. Knockdown of <italic>lmod3</italic> in zebrafish replicated NM-associated functional and pathological phenotypes. Together, these findings indicate that mutations in the gene encoding LMOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.</p></div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>Espagne</li><li>Finlande</li><li>France</li><li>Italie</li><li>Japon</li><li>Pays-Bas</li><li>Suède</li><li>États-Unis</li></country><region><li>Arizona</li><li>Californie</li><li>Communauté de Madrid</li><li>Haute-Normandie</li><li>Hollande-Septentrionale</li><li>Latium</li><li>Maryland</li><li>Massachusetts</li><li>Michigan</li><li>Nouvelle-Galles du Sud</li><li>Ontario</li><li>Pennsylvanie</li><li>Région Normandie</li><li>Région de Bruxelles-Capitale</li><li>Région de Kantō</li><li>Uusimaa</li><li>Victoria (État)</li><li>Washington (État)</li><li>Wisconsin</li><li>Île-de-France</li></region><settlement><li>Amsterdam</li><li>Bruxelles</li><li>Helsinki</li><li>Madrid</li><li>Melbourne</li><li>Paris</li><li>Rome</li><li>Rouen</li><li>Sydney</li><li>Tokyo</li><li>Toronto</li></settlement><orgName><li>Université d'Helsinki</li><li>Université de Melbourne</li><li>Université de Sydney</li><li>Université de Toronto</li></orgName></list><tree><noCountry><name sortKey="Flisberg, Anders" sort="Flisberg, Anders" uniqKey="Flisberg A" first="Anders" last="Flisberg">Anders Flisberg</name></noCountry><country name="Australie"><noRegion><name sortKey="Yuen, Michaela" sort="Yuen, Michaela" uniqKey="Yuen M" first="Michaela" last="Yuen">Michaela Yuen</name></noRegion><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><name sortKey="Houweling, Peter J" sort="Houweling, Peter J" uniqKey="Houweling P" first="Peter J." last="Houweling">Peter J. Houweling</name><name sortKey="Houweling, Peter J" sort="Houweling, Peter J" uniqKey="Houweling P" first="Peter J." last="Houweling">Peter J. Houweling</name><name sortKey="Houweling, Peter J" sort="Houweling, Peter J" uniqKey="Houweling P" first="Peter J." last="Houweling">Peter J. Houweling</name><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name><name sortKey="Quinlan, Kate G" sort="Quinlan, Kate G" uniqKey="Quinlan K" first="Kate G." last="Quinlan">Kate G. Quinlan</name><name sortKey="Quinlan, Kate G" sort="Quinlan, Kate G" uniqKey="Quinlan K" first="Kate G." last="Quinlan">Kate G. Quinlan</name><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. Sandaradura</name><name sortKey="Sandaradura, Sarah A" sort="Sandaradura, Sarah A" uniqKey="Sandaradura S" first="Sarah A." last="Sandaradura">Sarah A. 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C." last="Ottenheijm">Coen A. C. Ottenheijm</name></region></country><country name="Japon"><region name="Région de Kantō"><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name></region><name sortKey="Hayashi, Yukiko K" sort="Hayashi, Yukiko K" uniqKey="Hayashi Y" first="Yukiko K." last="Hayashi">Yukiko K. Hayashi</name><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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