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<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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff></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><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff></affiliation></author><author><name sortKey="Moroz, Natalia" sort="Moroz, Natalia" uniqKey="Moroz N" first="Natalia" last="Moroz">Natalia Moroz</name><affiliation><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><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></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><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></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><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></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><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff></affiliation></author><author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></affiliation></author><author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name><affiliation><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff></affiliation></author><author><name sortKey="Malfatti, Edoardo" sort="Malfatti, Edoardo" uniqKey="Malfatti E" first="Edoardo" last="Malfatti">Edoardo Malfatti</name><affiliation><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Gupta, Namrata" sort="Gupta, Namrata" uniqKey="Gupta N" first="Namrata" last="Gupta">Namrata Gupta</name><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name><affiliation><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff></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><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></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><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></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><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></affiliation></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name><affiliation><nlm:aff id="JCI75199">Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:aff></affiliation></author><author><name sortKey="Shannon, Patrick" sort="Shannon, Patrick" uniqKey="Shannon P" first="Patrick" last="Shannon">Patrick Shannon</name><affiliation><nlm:aff id="JCI75199">Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name><affiliation><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></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><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></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><nlm:aff id="JCI75199">Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels, Belgium.</nlm:aff></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation><nlm:aff id="JCI75199">Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Spain.</nlm:aff></affiliation><affiliation><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></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation><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></affiliation><affiliation><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></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation></author><author><name sortKey="Laquerriere, Annie" sort="Laquerriere, Annie" uniqKey="Laquerriere A" first="Annie" last="Laquerrière">Annie Laquerrière</name><affiliation><nlm:aff id="JCI75199">Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation><nlm:aff id="JCI75199">Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="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></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><nlm:aff id="JCI75199">Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff></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><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></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Department of Paediatrics, University of Melbourne, Victoria, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff></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><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff></affiliation></author><author><name sortKey="Moroz, Natalia" sort="Moroz, Natalia" uniqKey="Moroz N" first="Natalia" last="Moroz">Natalia Moroz</name><affiliation><nlm:aff id="JCI75199">The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><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></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><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></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><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></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><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff></affiliation></author><author><name sortKey="Maluenda, Jerome" sort="Maluenda, Jerome" uniqKey="Maluenda J" first="Jérome" last="Maluenda">Jérome Maluenda</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></affiliation></author><author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name><affiliation><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Nolent, Flora" sort="Nolent, Flora" uniqKey="Nolent F" first="Flora" last="Nolent">Flora Nolent</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff></affiliation></author><author><name sortKey="Malfatti, Edoardo" sort="Malfatti, Edoardo" uniqKey="Malfatti E" first="Edoardo" last="Malfatti">Edoardo Malfatti</name><affiliation><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Gupta, Namrata" sort="Gupta, Namrata" uniqKey="Gupta N" first="Namrata" last="Gupta">Namrata Gupta</name><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></affiliation></author><author><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name><affiliation><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:aff></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><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></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><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></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><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></affiliation></author><author><name sortKey="Medne, Livija" sort="Medne, Livija" uniqKey="Medne L" first="Livija" last="Medne">Livija Medne</name><affiliation><nlm:aff id="JCI75199">Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.</nlm:aff></affiliation></author><author><name sortKey="Shannon, Patrick" sort="Shannon, Patrick" uniqKey="Shannon P" first="Patrick" last="Shannon">Patrick Shannon</name><affiliation><nlm:aff id="JCI75199">Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name><affiliation><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></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><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></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><nlm:aff id="JCI75199">Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels, Belgium.</nlm:aff></affiliation></author><author><name sortKey="Lapunzina, Pablo" sort="Lapunzina, Pablo" uniqKey="Lapunzina P" first="Pablo" last="Lapunzina">Pablo Lapunzina</name><affiliation><nlm:aff id="JCI75199">Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Spain.</nlm:aff></affiliation><affiliation><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></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff></affiliation></author><author><name sortKey="Bertini, Enrico" sort="Bertini, Enrico" uniqKey="Bertini E" first="Enrico" last="Bertini">Enrico Bertini</name><affiliation><nlm:aff id="JCI75199">Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.</nlm:aff></affiliation></author><author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><affiliation><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></affiliation><affiliation><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></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><nlm:aff id="JCI75199">Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.</nlm:aff></affiliation></author><author><name sortKey="Laquerriere, Annie" sort="Laquerriere, Annie" uniqKey="Laquerriere A" first="Annie" last="Laquerrière">Annie Laquerrière</name><affiliation><nlm:aff id="JCI75199">Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.</nlm:aff></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><nlm:aff id="JCI75199">Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland, USA.</nlm:aff></affiliation></author><author><name sortKey="Pelin, Katarina" sort="Pelin, Katarina" uniqKey="Pelin K" first="Katarina" last="Pelin">Katarina Pelin</name><affiliation><nlm:aff id="JCI75199">Department of Biosciences, University of Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Beggs, Alan H" sort="Beggs, Alan H" uniqKey="Beggs A" first="Alan H." last="Beggs">Alan H. Beggs</name><affiliation><nlm:aff id="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></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><nlm:aff id="JCI75199">Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff></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><nlm:aff id="JCI75199">Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.</nlm:aff></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><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></affiliation></author><author><name sortKey="Nishino, Ichizo" sort="Nishino, Ichizo" uniqKey="Nishino I" first="Ichizo" last="Nishino">Ichizo Nishino</name><affiliation><nlm:aff id="JCI75199">Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.</nlm:aff></affiliation></author><author><name sortKey="Wallgren Pettersson, Carina" sort="Wallgren Pettersson, Carina" uniqKey="Wallgren Pettersson C" first="Carina" last="Wallgren-Pettersson">Carina Wallgren-Pettersson</name><affiliation><nlm:aff id="JCI75199">Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.</nlm:aff></affiliation></author><author><name sortKey="Melki, Judith" sort="Melki, Judith" uniqKey="Melki J" first="Judith" last="Melki">Judith Melki</name><affiliation><nlm:aff id="JCI75199">Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France.</nlm:aff></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><nlm:aff id="JCI75199">Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.</nlm:aff></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><nlm:aff id="JCI75199">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Department of Paediatrics, University of Melbourne, Victoria, Australia.</nlm:aff></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><nlm:aff id="JCI75199">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.</nlm:aff></affiliation><affiliation><nlm:aff id="JCI75199">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Clin Invest</journal-id><journal-id journal-id-type="iso-abbrev">J. Clin. Invest</journal-id><journal-id journal-id-type="publisher-id">J CLIN INVEST</journal-id><journal-title-group><journal-title>The Journal of Clinical Investigation</journal-title></journal-title-group><issn pub-type="ppub">0021-9738</issn><issn pub-type="epub">1558-8238</issn><publisher><publisher-name>American Society for Clinical Investigation</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25250574</article-id><article-id pub-id-type="pmc">4347224</article-id><article-id pub-id-type="publisher-id">75199</article-id><article-id pub-id-type="doi">10.1172/JCI75199</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Yuen</surname><given-names>Michaela</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref></contrib><contrib contrib-type="author"><name><surname>Sandaradura</surname><given-names>Sarah A.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref></contrib><contrib contrib-type="author"><name><surname>Dowling</surname><given-names>James J.</given-names></name><xref ref-type="aff" rid="JCI75199">3</xref><xref ref-type="aff" rid="JCI75199">4</xref></contrib><contrib contrib-type="author"><name><surname>Kostyukova</surname><given-names>Alla S.</given-names></name><xref ref-type="aff" rid="JCI75199">5</xref></contrib><contrib contrib-type="author"><name><surname>Moroz</surname><given-names>Natalia</given-names></name><xref ref-type="aff" rid="JCI75199">5</xref></contrib><contrib contrib-type="author"><name><surname>Quinlan</surname><given-names>Kate G.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref></contrib><contrib contrib-type="author"><name><surname>Lehtokari</surname><given-names>Vilma-Lotta</given-names></name><xref ref-type="aff" rid="JCI75199">6</xref></contrib><contrib contrib-type="author"><name><surname>Ravenscroft</surname><given-names>Gianina</given-names></name><xref ref-type="aff" rid="JCI75199">7</xref></contrib><contrib contrib-type="author"><name><surname>Todd</surname><given-names>Emily J.</given-names></name><xref ref-type="aff" rid="JCI75199">7</xref></contrib><contrib contrib-type="author"><name><surname>Ceyhan-Birsoy</surname><given-names>Ozge</given-names></name><xref ref-type="aff" rid="JCI75199">8</xref></contrib><contrib contrib-type="author"><name><surname>Gokhin</surname><given-names>David S.</given-names></name><xref ref-type="aff" rid="JCI75199">9</xref></contrib><contrib contrib-type="author"><name><surname>Maluenda</surname><given-names>Jérome</given-names></name><xref ref-type="aff" rid="JCI75199">10</xref></contrib><contrib contrib-type="author"><name><surname>Lek</surname><given-names>Monkol</given-names></name><xref ref-type="aff" rid="JCI75199">11</xref><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>Nolent</surname><given-names>Flora</given-names></name><xref ref-type="aff" rid="JCI75199">10</xref></contrib><contrib contrib-type="author"><name><surname>Pappas</surname><given-names>Christopher T.</given-names></name><xref ref-type="aff" rid="JCI75199">13</xref></contrib><contrib contrib-type="author"><name><surname>Novak</surname><given-names>Stefanie M.</given-names></name><xref ref-type="aff" rid="JCI75199">13</xref></contrib><contrib contrib-type="author"><name><surname>D’Amico</surname><given-names>Adele</given-names></name><xref ref-type="aff" rid="JCI75199">14</xref></contrib><contrib contrib-type="author"><name><surname>Malfatti</surname><given-names>Edoardo</given-names></name><xref ref-type="aff" rid="JCI75199">15</xref></contrib><contrib contrib-type="author"><name><surname>Thomas</surname><given-names>Brett P.</given-names></name><xref ref-type="aff" rid="JCI75199">11</xref><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>Gabriel</surname><given-names>Stacey B.</given-names></name><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>Gupta</surname><given-names>Namrata</given-names></name><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>Daly</surname><given-names>Mark J.</given-names></name><xref ref-type="aff" rid="JCI75199">11</xref><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>Ilkovski</surname><given-names>Biljana</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref></contrib><contrib contrib-type="author"><name><surname>Houweling</surname><given-names>Peter J.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref><xref ref-type="aff" rid="JCI75199">16</xref></contrib><contrib contrib-type="author"><name><surname>Davidson</surname><given-names>Ann E.</given-names></name><xref ref-type="aff" rid="JCI75199">3</xref><xref ref-type="aff" rid="JCI75199">4</xref></contrib><contrib contrib-type="author"><name><surname>Swanson</surname><given-names>Lindsay C.</given-names></name><xref ref-type="aff" rid="JCI75199">8</xref></contrib><contrib contrib-type="author"><name><surname>Brownstein</surname><given-names>Catherine A.</given-names></name><xref ref-type="aff" rid="JCI75199">8</xref></contrib><contrib contrib-type="author"><name><surname>Gupta</surname><given-names>Vandana A.</given-names></name><xref ref-type="aff" rid="JCI75199">8</xref></contrib><contrib contrib-type="author"><name><surname>Medne</surname><given-names>Livija</given-names></name><xref ref-type="aff" rid="JCI75199">17</xref></contrib><contrib contrib-type="author"><name><surname>Shannon</surname><given-names>Patrick</given-names></name><xref ref-type="aff" rid="JCI75199">18</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Nicole</given-names></name><xref ref-type="aff" rid="JCI75199">19</xref></contrib><contrib contrib-type="author"><name><surname>Bick</surname><given-names>David P.</given-names></name><xref ref-type="aff" rid="JCI75199">20</xref></contrib><contrib contrib-type="author"><name><surname>Flisberg</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="JCI75199">21</xref></contrib><contrib contrib-type="author"><name><surname>Holmberg</surname><given-names>Eva</given-names></name><xref ref-type="aff" rid="JCI75199">22</xref></contrib><contrib contrib-type="author"><name><surname>Van den Bergh</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="JCI75199">23</xref></contrib><contrib contrib-type="author"><name><surname>Lapunzina</surname><given-names>Pablo</given-names></name><xref ref-type="aff" rid="JCI75199">24</xref><xref ref-type="aff" rid="JCI75199">25</xref></contrib><contrib contrib-type="author"><name><surname>Waddell</surname><given-names>Leigh B.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref></contrib><contrib contrib-type="author"><name><surname>Sloboda</surname><given-names>Darcée D.</given-names></name><xref ref-type="aff" rid="JCI75199">26</xref></contrib><contrib contrib-type="author"><name><surname>Bertini</surname><given-names>Enrico</given-names></name><xref ref-type="aff" rid="JCI75199">14</xref></contrib><contrib contrib-type="author"><name><surname>Chitayat</surname><given-names>David</given-names></name><xref ref-type="aff" rid="JCI75199">19</xref><xref ref-type="aff" rid="JCI75199">27</xref></contrib><contrib contrib-type="author"><name><surname>Telfer</surname><given-names>William R.</given-names></name><xref ref-type="aff" rid="JCI75199">3</xref></contrib><contrib contrib-type="author"><name><surname>Laquerrière</surname><given-names>Annie</given-names></name><xref ref-type="aff" rid="JCI75199">28</xref></contrib><contrib contrib-type="author"><name><surname>Gregorio</surname><given-names>Carol C.</given-names></name><xref ref-type="aff" rid="JCI75199">13</xref></contrib><contrib contrib-type="author"><name><surname>Ottenheijm</surname><given-names>Coen A.C.</given-names></name><xref ref-type="aff" rid="JCI75199">29</xref></contrib><contrib contrib-type="author"><name><surname>Bönnemann</surname><given-names>Carsten G.</given-names></name><xref ref-type="aff" rid="JCI75199">30</xref></contrib><contrib contrib-type="author"><name><surname>Pelin</surname><given-names>Katarina</given-names></name><xref ref-type="aff" rid="JCI75199">31</xref></contrib><contrib contrib-type="author"><name><surname>Beggs</surname><given-names>Alan H.</given-names></name><xref ref-type="aff" rid="JCI75199">8</xref></contrib><contrib contrib-type="author"><name><surname>Hayashi</surname><given-names>Yukiko K.</given-names></name><xref ref-type="aff" rid="JCI75199">32</xref><xref ref-type="aff" rid="JCI75199">33</xref></contrib><contrib contrib-type="author"><name><surname>Romero</surname><given-names>Norma B.</given-names></name><xref ref-type="aff" rid="JCI75199">15</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref ref-type="aff" rid="JCI75199">7</xref></contrib><contrib contrib-type="author"><name><surname>Nishino</surname><given-names>Ichizo</given-names></name><xref ref-type="aff" rid="JCI75199">33</xref></contrib><contrib contrib-type="author"><name><surname>Wallgren-Pettersson</surname><given-names>Carina</given-names></name><xref ref-type="aff" rid="JCI75199">6</xref></contrib><contrib contrib-type="author"><name><surname>Melki</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="JCI75199">10</xref><xref ref-type="aff" rid="JCI75199">34</xref></contrib><contrib contrib-type="author"><name><surname>Fowler</surname><given-names>Velia M.</given-names></name><xref ref-type="aff" rid="JCI75199">9</xref></contrib><contrib contrib-type="author"><name><surname>MacArthur</surname><given-names>Daniel G.</given-names></name><xref ref-type="aff" rid="JCI75199">11</xref><xref ref-type="aff" rid="JCI75199">12</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">16</xref><xref ref-type="aff" rid="JCI75199">35</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref ref-type="aff" rid="JCI75199">1</xref><xref ref-type="aff" rid="JCI75199">2</xref></contrib></contrib-group><aff id="JCI75199"><label>1</label>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia.<label>2</label>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, New South Wales, Australia.<label>3</label>Departments of Pediatrics and Neurology, University of Michigan Medical Center, Ann Arbor, Michigan, USA.<label>4</label>Division of Neurology and Program of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada.<label>5</label>The Gene and Linda Voiland School of Chemical Engineering and Bioengineering, Washington State University, Pullman, Washington, USA.<label>6</label>Folkhälsan Institute of Genetics and Department of Medical Genetics, University of Helsinki, Haartman Institute, Biomedicum Helsinki, Helsinki, Finland.<label>7</label>Western Australia Institute for Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.<label>8</label>Division of Genetics and Genomics, The Manton Centre for Orphan Disease Research, Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA.<label>9</label>Department of Cell and Molecular Biology, The Scripps Research Institute, La Jolla, California, USA.<label>10</label>Unité Mixte de Recherche 788, INSERM and University Paris, Le Kremlin-Bicêtre, France.<label>11</label>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.<label>12</label>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.<label>13</label>Department of Cellular and Molecular Medicine, University of Arizona, Tucson, Arizona, USA.<label>14</label>Laboratory of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Children’s Hospital, Rome, Italy.<label>15</label>Neuromuscular Morphology Unit, Institute of Myology, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France.<label>16</label>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia.<label>17</label>Divisions of Human Genetics and Neurology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<label>18</label>Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.<label>19</label>The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynaecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.<label>20</label>Section of Genetics, Department of Pediatrics and Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.<label>21</label>Department of Neonatology and<label>22</label>Department of Clinical Genetics, Sahlgrenska University Hospital, Göteborg, Sweden.<label>23</label>Neuromuscular Reference Centre, University Hospitals Saint-Luc, Brussels, Belgium.<label>24</label>Instituto de Genética Médica y Molecular, Instituto de Investigación Sanitaria del Hospital Universitario La Paz, Madrid, Spain.<label>25</label>Universidad Autónoma de Madrid and Centro de Investigacion Biomedica en Red de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.<label>26</label>Department of Biomedical Engineering, University of Michigan, Ann Arbor, Michigan, USA.<label>27</label>Division of Clinical and Medical Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.<label>28</label>Pathology Laboratory and NeoVasc Region-INSERM Team ERI28, University of Rouen, Rouen, France.<label>29</label>Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam, The Netherlands.<label>30</label>Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke/NIH, Bethesda, Maryland, USA.<label>31</label>Department of Biosciences, University of Helsinki, Helsinki, Finland.<label>32</label>Department of Neurophysiology, Tokyo Medical University, Tokyo, Japan.<label>33</label>Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.<label>34</label>Unité de Génétique Médicale, Centre Hospitalier Sud Francilien, Corbeil Essonnes, France.<label>35</label>Department of Paediatrics, University of Melbourne, Victoria, Australia.</aff><author-notes><corresp>Address correspondence to: Kathryn N. North, Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia. Phone: 61.3.83416226; E-mail: <email>kathryn.north@mcri.edu.au</email>.</corresp><fn><p><bold>Authorship note:</bold> Michaela Yuen and Sarah A. Sandaradura contributed equally to this work. Kathryn N. North and Nigel F. Clarke contributed equally to this work and are co–senior authors.</p></fn></author-notes><pub-date pub-type="epub"><day>24</day><month>9</month><year>2014</year></pub-date><pub-date pub-type="ppub"><day>3</day><month>11</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>3</day><month>2</month><year>2015</year></pub-date><pmc-comment> PMC Release delay is 3 months and 0 days and was based on the
<volume>124</volume><issue>11</issue><fpage>4693</fpage><lpage>4708</lpage><history><date date-type="received"><day>30</day><month>1</month><year>2014</year></date><date date-type="accepted"><day>19</day><month>8</month><year>2014</year></date></history><permissions><copyright-statement>Copyright © 2014, American Society for Clinical Investigation</copyright-statement><copyright-year>2014</copyright-year><copyright-holder>American Society for Clinical Investigation</copyright-holder></permissions><abstract><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></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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