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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization</title><author><name sortKey="O Rady, Gina L" sort="O Rady, Gina L" uniqKey="O Rady G" first="Gina L." last="O Rady">Gina L. O Rady</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paediatric Neurology Service, Starship Children’s Health, Auckland 1023, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Best, Heather A" sort="Best, Heather A" uniqKey="Best H" first="Heather A." last="Best">Heather A. Best</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author><author><name sortKey="Sztal, Tamar E" sort="Sztal, Tamar E" uniqKey="Sztal T" first="Tamar E." last="Sztal">Tamar E. Sztal</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Schartner, Vanessa" sort="Schartner, Vanessa" uniqKey="Schartner V" first="Vanessa" last="Schartner">Vanessa Schartner</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Sanjuan Vazquez, Myriam" sort="Sanjuan Vazquez, Myriam" uniqKey="Sanjuan Vazquez M" first="Myriam" last="Sanjuan-Vazquez">Myriam Sanjuan-Vazquez</name><affiliation><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</nlm:aff></affiliation></author><author><name sortKey="Donkervoort, Sandra" sort="Donkervoort, Sandra" uniqKey="Donkervoort S" first="Sandra" last="Donkervoort">Sandra Donkervoort</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Abath Neto, Osorio" sort="Abath Neto, Osorio" uniqKey="Abath Neto O" first="Osorio" last="Abath Neto">Osorio Abath Neto</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Sutton, Roger Bryan" sort="Sutton, Roger Bryan" uniqKey="Sutton R" first="Roger Bryan" last="Sutton">Roger Bryan Sutton</name><affiliation><nlm:aff id="aff8">Department of Cell Physiology and Molecular Biophysics, and Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430, 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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Romero, Norma Beatriz" sort="Romero, Norma Beatriz" uniqKey="Romero N" first="Norma Beatriz" last="Romero">Norma Beatriz Romero</name><affiliation><nlm:aff id="aff9">Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Dastgir, Jahannaz" sort="Dastgir, Jahannaz" uniqKey="Dastgir J" first="Jahannaz" last="Dastgir">Jahannaz Dastgir</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Boland, Anne" sort="Boland, Anne" uniqKey="Boland A" first="Anne" last="Boland">Anne Boland</name><affiliation><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Hu, Ying" sort="Hu, Ying" uniqKey="Hu Y" first="Ying" last="Hu">Ying Hu</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Williams, Caitlin" sort="Williams, Caitlin" uniqKey="Williams C" first="Caitlin" last="Williams">Caitlin Williams</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ruparelia, Avnika A" sort="Ruparelia, Avnika A" uniqKey="Ruparelia A" first="Avnika A." last="Ruparelia">Avnika A. Ruparelia</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Peduto, Anthony J" sort="Peduto, Anthony J" uniqKey="Peduto A" first="Anthony J." last="Peduto">Anthony J. Peduto</name><affiliation><nlm:aff id="aff12">Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024, Australia</nlm:aff></affiliation></author><author><name sortKey="Reddel, Stephen W" sort="Reddel, Stephen W" uniqKey="Reddel S" first="Stephen W." last="Reddel">Stephen W. Reddel</name><affiliation><nlm:aff id="aff13">Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia</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="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Tukiainen, Taru" sort="Tukiainen, Taru" uniqKey="Tukiainen T" first="Taru" last="Tukiainen">Taru Tukiainen</name><affiliation><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Cummings, Beryl B" sort="Cummings, Beryl B" uniqKey="Cummings B" first="Beryl B." last="Cummings">Beryl B. Cummings</name><affiliation><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Joshi, Himanshu" sort="Joshi, Himanshu" uniqKey="Joshi H" first="Himanshu" last="Joshi">Himanshu Joshi</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name><affiliation><nlm:aff id="aff16">Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France</nlm:aff></affiliation></author><author><name sortKey="Brammah, Susan" sort="Brammah, Susan" uniqKey="Brammah S" first="Susan" last="Brammah">Susan Brammah</name><affiliation><nlm:aff id="aff18">Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia</nlm:aff></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Ing, Viola Oorschot" sort="Ing, Viola Oorschot" uniqKey="Ing V" first="Viola Oorschot" last="Ing">Viola Oorschot Ing</name><affiliation><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name><affiliation><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ardicli, Didem" sort="Ardicli, Didem" uniqKey="Ardicli D" first="Didem" last="Ardicli">Didem Ardicli</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name><affiliation><nlm:aff id="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</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="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia</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="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Friant, Sylvie" sort="Friant, Sylvie" uniqKey="Friant S" first="Sylvie" last="Friant">Sylvie Friant</name><affiliation><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author><author><name sortKey="Bryson Richardson, Robert J" sort="Bryson Richardson, Robert J" uniqKey="Bryson Richardson R" first="Robert J." last="Bryson-Richardson">Robert J. Bryson-Richardson</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</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="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Université de Strasbourg, 67081 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T." last="Cooper">Sandra T. Cooper</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27745833</idno><idno type="pmc">5097943</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097943</idno><idno type="RBID">PMC:5097943</idno><idno type="doi">10.1016/j.ajhg.2016.09.005</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001697</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001697</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization</title><author><name sortKey="O Rady, Gina L" sort="O Rady, Gina L" uniqKey="O Rady G" first="Gina L." last="O Rady">Gina L. O Rady</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Paediatric Neurology Service, Starship Children’s Health, Auckland 1023, New Zealand</nlm:aff></affiliation></author><author><name sortKey="Best, Heather A" sort="Best, Heather A" uniqKey="Best H" first="Heather A." last="Best">Heather A. Best</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author><author><name sortKey="Sztal, Tamar E" sort="Sztal, Tamar E" uniqKey="Sztal T" first="Tamar E." last="Sztal">Tamar E. Sztal</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Schartner, Vanessa" sort="Schartner, Vanessa" uniqKey="Schartner V" first="Vanessa" last="Schartner">Vanessa Schartner</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Sanjuan Vazquez, Myriam" sort="Sanjuan Vazquez, Myriam" uniqKey="Sanjuan Vazquez M" first="Myriam" last="Sanjuan-Vazquez">Myriam Sanjuan-Vazquez</name><affiliation><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</nlm:aff></affiliation></author><author><name sortKey="Donkervoort, Sandra" sort="Donkervoort, Sandra" uniqKey="Donkervoort S" first="Sandra" last="Donkervoort">Sandra Donkervoort</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Abath Neto, Osorio" sort="Abath Neto, Osorio" uniqKey="Abath Neto O" first="Osorio" last="Abath Neto">Osorio Abath Neto</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Sutton, Roger Bryan" sort="Sutton, Roger Bryan" uniqKey="Sutton R" first="Roger Bryan" last="Sutton">Roger Bryan Sutton</name><affiliation><nlm:aff id="aff8">Department of Cell Physiology and Molecular Biophysics, and Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430, 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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Romero, Norma Beatriz" sort="Romero, Norma Beatriz" uniqKey="Romero N" first="Norma Beatriz" last="Romero">Norma Beatriz Romero</name><affiliation><nlm:aff id="aff9">Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Dastgir, Jahannaz" sort="Dastgir, Jahannaz" uniqKey="Dastgir J" first="Jahannaz" last="Dastgir">Jahannaz Dastgir</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Boland, Anne" sort="Boland, Anne" uniqKey="Boland A" first="Anne" last="Boland">Anne Boland</name><affiliation><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Hu, Ying" sort="Hu, Ying" uniqKey="Hu Y" first="Ying" last="Hu">Ying Hu</name><affiliation><nlm:aff id="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Williams, Caitlin" sort="Williams, Caitlin" uniqKey="Williams C" first="Caitlin" last="Williams">Caitlin Williams</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ruparelia, Avnika A" sort="Ruparelia, Avnika A" uniqKey="Ruparelia A" first="Avnika A." last="Ruparelia">Avnika A. Ruparelia</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name><affiliation><nlm:aff id="aff10">Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Peduto, Anthony J" sort="Peduto, Anthony J" uniqKey="Peduto A" first="Anthony J." last="Peduto">Anthony J. Peduto</name><affiliation><nlm:aff id="aff12">Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024, Australia</nlm:aff></affiliation></author><author><name sortKey="Reddel, Stephen W" sort="Reddel, Stephen W" uniqKey="Reddel S" first="Stephen W." last="Reddel">Stephen W. Reddel</name><affiliation><nlm:aff id="aff13">Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia</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="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Tukiainen, Taru" sort="Tukiainen, Taru" uniqKey="Tukiainen T" first="Taru" last="Tukiainen">Taru Tukiainen</name><affiliation><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Cummings, Beryl B" sort="Cummings, Beryl B" uniqKey="Cummings B" first="Beryl B." last="Cummings">Beryl B. Cummings</name><affiliation><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Joshi, Himanshu" sort="Joshi, Himanshu" uniqKey="Joshi H" first="Himanshu" last="Joshi">Himanshu Joshi</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name><affiliation><nlm:aff id="aff16">Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff17">INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France</nlm:aff></affiliation></author><author><name sortKey="Brammah, Susan" sort="Brammah, Susan" uniqKey="Brammah S" first="Susan" last="Brammah">Susan Brammah</name><affiliation><nlm:aff id="aff18">Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia</nlm:aff></affiliation></author><author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name><affiliation><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff></affiliation></author><author><name sortKey="Ing, Viola Oorschot" sort="Ing, Viola Oorschot" uniqKey="Ing V" first="Viola Oorschot" last="Ing">Viola Oorschot Ing</name><affiliation><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name><affiliation><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff20">Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia</nlm:aff></affiliation></author><author><name sortKey="Ardicli, Didem" sort="Ardicli, Didem" uniqKey="Ardicli D" first="Didem" last="Ardicli">Didem Ardicli</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name><affiliation><nlm:aff id="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</nlm:aff></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name><affiliation><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</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="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia</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="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff></affiliation></author><author><name sortKey="Friant, Sylvie" sort="Friant, Sylvie" uniqKey="Friant S" first="Sylvie" last="Friant">Sylvie Friant</name><affiliation><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</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="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author><author><name sortKey="Bryson Richardson, Robert J" sort="Bryson Richardson, Robert J" uniqKey="Bryson Richardson R" first="Robert J." last="Bryson-Richardson">Robert J. Bryson-Richardson</name><affiliation><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</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="aff7">National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</nlm:aff></affiliation></author><author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name><affiliation><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Université de Strasbourg, 67081 Illkirch, France</nlm:aff></affiliation></author><author><name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T." last="Cooper">Sandra T. Cooper</name><affiliation><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>This study establishes <italic>PYROXD1</italic> variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of <italic>PYROXD1</italic> in skeletal muscle. Exome sequencing identified recessive variants in <italic>PYROXD1</italic> in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase. Distinctive histopathology showed abundant internalized nuclei, myofibrillar disorganization, desmin-positive inclusions, and thickened Z-bands. PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins (FAD-binding) and catalyze pyridine-nucleotide-dependent (NAD/NADH) reduction of thiol residues in other proteins. Complementation experiments in yeast lacking glutathione reductase <italic>glr1</italic> show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with <italic>ryroxD1</italic> knock-down recapitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar aggregates, and marked swimming defect. We characterize variants in the oxidoreductase <italic>PYROXD1</italic> as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease.</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">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27745833</article-id><article-id pub-id-type="pmc">5097943</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)30385-8</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.09.005</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>O’Grady</surname><given-names>Gina L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Best</surname><given-names>Heather A.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Sztal</surname><given-names>Tamar E.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="fn1" ref-type="fn">25</xref></contrib><contrib contrib-type="author"><name><surname>Schartner</surname><given-names>Vanessa</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn2" ref-type="fn">26</xref></contrib><contrib contrib-type="author"><name><surname>Sanjuan-Vazquez</surname><given-names>Myriam</given-names></name><xref rid="aff6" ref-type="aff">6</xref><xref rid="fn2" ref-type="fn">26</xref></contrib><contrib contrib-type="author"><name><surname>Donkervoort</surname><given-names>Sandra</given-names></name><xref rid="aff7" ref-type="aff">7</xref><xref rid="fn2" ref-type="fn">26</xref></contrib><contrib contrib-type="author"><name><surname>Abath Neto</surname><given-names>Osorio</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Sutton</surname><given-names>Roger Bryan</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Ilkovski</surname><given-names>Biljana</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Romero</surname><given-names>Norma Beatriz</given-names></name><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Stojkovic</surname><given-names>Tanya</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Dastgir</surname><given-names>Jahannaz</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Waddell</surname><given-names>Leigh B.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Boland</surname><given-names>Anne</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Hu</surname><given-names>Ying</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Williams</surname><given-names>Caitlin</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Ruparelia</surname><given-names>Avnika A.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Maisonobe</surname><given-names>Thierry</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Peduto</surname><given-names>Anthony J.</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Reddel</surname><given-names>Stephen W.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Lek</surname><given-names>Monkol</given-names></name><xref rid="aff14" ref-type="aff">14</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Tukiainen</surname><given-names>Taru</given-names></name><xref rid="aff14" ref-type="aff">14</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Cummings</surname><given-names>Beryl B.</given-names></name><xref rid="aff14" ref-type="aff">14</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Joshi</surname><given-names>Himanshu</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Nectoux</surname><given-names>Juliette</given-names></name><xref rid="aff16" ref-type="aff">16</xref><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Brammah</surname><given-names>Susan</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Deleuze</surname><given-names>Jean-François</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Ing</surname><given-names>Viola Oorschot</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Ramm</surname><given-names>Georg</given-names></name><xref rid="aff19" ref-type="aff">19</xref><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Ardicli</surname><given-names>Didem</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Nowak</surname><given-names>Kristen J.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Talim</surname><given-names>Beril</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Topaloglu</surname><given-names>Haluk</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Laing</surname><given-names>Nigel G.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>North</surname><given-names>Kathryn N.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>MacArthur</surname><given-names>Daniel G.</given-names></name><xref rid="aff14" ref-type="aff">14</xref><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Friant</surname><given-names>Sylvie</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Clarke</surname><given-names>Nigel F.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Bryson-Richardson</surname><given-names>Robert J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Bönnemann</surname><given-names>Carsten G.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Laporte</surname><given-names>Jocelyn</given-names></name><xref rid="aff5" ref-type="aff">5</xref><xref rid="aff24" ref-type="aff">24</xref><xref rid="fn3" ref-type="fn">27</xref></contrib><contrib contrib-type="author"><name><surname>Cooper</surname><given-names>Sandra T.</given-names></name><email>sandra.cooper@sydney.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn3" ref-type="fn">27</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</aff><aff id="aff2"><label>2</label>Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</aff><aff id="aff3"><label>3</label>Paediatric Neurology Service, Starship Children’s Health, Auckland 1023, New Zealand</aff><aff id="aff4"><label>4</label>School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</aff><aff id="aff5"><label>5</label>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</aff><aff id="aff6"><label>6</label>Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</aff><aff id="aff7"><label>7</label>National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477, USA</aff><aff id="aff8"><label>8</label>Department of Cell Physiology and Molecular Biophysics, and Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430, USA</aff><aff id="aff9"><label>9</label>Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l’hôpital, 75013 Paris, France</aff><aff id="aff10"><label>10</label>Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris, France</aff><aff id="aff11"><label>11</label>Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</aff><aff id="aff12"><label>12</label>Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024, Australia</aff><aff id="aff13"><label>13</label>Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia</aff><aff id="aff14"><label>14</label>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</aff><aff id="aff15"><label>15</label>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</aff><aff id="aff16"><label>16</label>Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014, France</aff><aff id="aff17"><label>17</label>INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France</aff><aff id="aff18"><label>18</label>Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia</aff><aff id="aff19"><label>19</label>The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</aff><aff id="aff20"><label>20</label>Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia</aff><aff id="aff21"><label>21</label>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</aff><aff id="aff22"><label>22</label>Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</aff><aff id="aff23"><label>23</label>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia</aff><aff id="aff24"><label>24</label>Université de Strasbourg, 67081 Illkirch, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>sandra.cooper@sydney.edu.au</email></corresp><fn id="fn1"><label>25</label><p id="ntpara0010">These authors contributed equally to this work</p></fn><fn id="fn2"><label>26</label><p id="ntpara0015">These authors contributed equally to this work</p></fn><fn id="fn3"><label>27</label><p id="ntpara0020">These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>03</day><month>11</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>13</day><month>10</month><year>2016</year></pub-date><volume>99</volume><issue>5</issue><fpage>1086</fpage><lpage>1105</lpage><history><date date-type="received"><day>27</day><month>4</month><year>2016</year></date><date date-type="accepted"><day>7</day><month>9</month><year>2016</year></date></history><permissions><copyright-statement>© 2016 American Society of Human Genetics.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>American Society of Human Genetics</copyright-holder></permissions><abstract id="abs0010"><p>This study establishes <italic>PYROXD1</italic> variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of <italic>PYROXD1</italic> in skeletal muscle. Exome sequencing identified recessive variants in <italic>PYROXD1</italic> in nine probands from five families. Affected individuals presented in infancy or childhood with slowly progressive proximal and distal weakness, facial weakness, nasal speech, swallowing difficulties, and normal to moderately elevated creatine kinase. Distinctive histopathology showed abundant internalized nuclei, myofibrillar disorganization, desmin-positive inclusions, and thickened Z-bands. PYROXD1 is a nuclear-cytoplasmic pyridine nucleotide-disulphide reductase (PNDR). PNDRs are flavoproteins (FAD-binding) and catalyze pyridine-nucleotide-dependent (NAD/NADH) reduction of thiol residues in other proteins. Complementation experiments in yeast lacking glutathione reductase <italic>glr1</italic> show that human PYROXD1 has reductase activity that is strongly impaired by the disease-associated missense mutations. Immunolocalization studies in human muscle and zebrafish myofibers demonstrate that PYROXD1 localizes to the nucleus and to striated sarcomeric compartments. Zebrafish with <italic>ryroxD1</italic> knock-down recapitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar aggregates, and marked swimming defect. We characterize variants in the oxidoreductase <italic>PYROXD1</italic> as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease.</p></abstract></article-meta><notes><p id="misc0010">Published: October 13, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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