AustralieFrV1, Ncbi, Checkpoint, bibRecord, 003D15

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Identifieur interne : 003D15 ( Ncbi/Checkpoint ); précédent : 003D14; suivant : 003D16

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Auteurs : Gina L. O Rady [Australie, Nouvelle-Zélande] ; Heather A. Best [Australie] ; Tamar E. Sztal [Australie] ; Vanessa Schartner [France] ; Myriam Sanjuan-Vazquez [France] ; Sandra Donkervoort [États-Unis] ; Osorio Abath Neto [France] ; Roger Bryan Sutton [États-Unis] ; Biljana Ilkovski [Australie] ; Norma Beatriz Romero [France] ; Tanya Stojkovic [France] ; Jahannaz Dastgir [États-Unis] ; Leigh B. Waddell [Australie] ; Anne Boland [France] ; Ying Hu [États-Unis] ; Caitlin Williams [Australie] ; Avnika A. Ruparelia [Australie] ; Thierry Maisonobe [France] ; Anthony J. Peduto [Australie] ; Stephen W. Reddel [Australie] ; Monkol Lek [États-Unis] ; Taru Tukiainen [États-Unis] ; Beryl B. Cummings [États-Unis] ; Himanshu Joshi [Australie] ; Juliette Nectoux [France] ; Susan Brammah [Australie] ; Jean-François Deleuze [France] ; Viola Oorschot Ing [Australie] ; Georg Ramm [Australie] ; Didem Ardicli [Turquie] ; Kristen J. Nowak [Australie] ; Beril Talim [Turquie] ; Haluk Topaloglu [Turquie] ; Nigel G. Laing [Australie] ; Kathryn N. North [Australie] ; Daniel G. Macarthur [États-Unis] ; Sylvie Friant [France] ; Nigel F. Clarke [Australie] ; Robert J. Bryson-Richardson [Australie] ; Carsten G. Bönnemann [États-Unis] ; Jocelyn Laporte [France] ; Sandra T. Cooper [Australie]

Source :

American Journal of Human Genetics [ 0002-9297 ] ; 2016.

RBID : PMC:5097943

Descripteurs français

English descriptors

Abstract

This study establishes PYROXD1 variants as a cause of early-onset myopathy and uses biospecimens and cell lines, yeast, and zebrafish models to elucidate the fundamental role of PYROXD1 in skeletal muscle. Exome sequencing identified recessive variants in PYROXD1 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 glr1 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 ryroxD1 knock-down recapitulate features of PYROXD1 myopathy with sarcomeric disorganization, myofibrillar aggregates, and marked swimming defect. We characterize variants in the oxidoreductase PYROXD1 as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097943

DOI: 10.1016/j.ajhg.2016.09.005
PubMed: 27745833
PubMed Central: 5097943

Affiliations:

Links to Exploration step

PMC:5097943

Le document en format XML

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<wicri:regionArea>Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139</wicri:regionArea>
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<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
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<author><name sortKey="Joshi, Himanshu" sort="Joshi, Himanshu" uniqKey="Joshi H" first="Himanshu" last="Joshi">Himanshu Joshi</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
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<author><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014</wicri:regionArea>
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<affiliation wicri:level="4"><nlm:aff id="aff17">INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014</wicri:regionArea>
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<settlement type="city">Paris</settlement>
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<orgName type="university">Université Paris-Descartes</orgName>
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<author><name sortKey="Brammah, Susan" sort="Brammah, Susan" uniqKey="Brammah S" first="Susan" last="Brammah">Susan Brammah</name>
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<author><name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
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</author>
<author><name sortKey="Ing, Viola Oorschot" sort="Ing, Viola Oorschot" uniqKey="Ing V" first="Viola Oorschot" last="Ing">Viola Oorschot Ing</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800</wicri:regionArea>
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</author>
<author><name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff20">Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800</wicri:regionArea>
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<author><name sortKey="Ardicli, Didem" sort="Ardicli, Didem" uniqKey="Ardicli D" first="Didem" last="Ardicli">Didem Ardicli</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
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<author><name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name>
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</author>
<author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name>
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<author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name>
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<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
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</author>
<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
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<author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name>
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</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia</nlm:aff>
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<author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
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<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
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<wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Friant, Sylvie" sort="Friant, Sylvie" uniqKey="Friant S" first="Sylvie" last="Friant">Sylvie Friant</name>
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<author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name>
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<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>
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<author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name>
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<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
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<author><name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T." last="Cooper">Sandra T. Cooper</name>
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<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 wicri:level="1"><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>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
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<affiliation wicri:level="4"><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006</wicri:regionArea>
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</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff3">Paediatric Neurology Service, Starship Children’s Health, Auckland 1023, New Zealand</nlm:aff>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Paediatric Neurology Service, Starship Children’s Health, Auckland 1023</wicri:regionArea>
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<author><name sortKey="Best, Heather A" sort="Best, Heather A" uniqKey="Best H" first="Heather A." last="Best">Heather A. Best</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
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<orgName type="university">Université de Sydney</orgName>
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</affiliation>
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<author><name sortKey="Sztal, Tamar E" sort="Sztal, Tamar E" uniqKey="Sztal T" first="Tamar E." last="Sztal">Tamar E. Sztal</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Biological Sciences, Monash University, Melbourne, VIC 3800</wicri:regionArea>
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</author>
<author><name sortKey="Schartner, Vanessa" sort="Schartner, Vanessa" uniqKey="Schartner V" first="Vanessa" last="Schartner">Vanessa Schartner</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch</wicri:regionArea>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
<wicri:noRegion>67400 Illkirch</wicri:noRegion>
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</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 wicri:level="4"><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081</wicri:regionArea>
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<author><name sortKey="Donkervoort, Sandra" sort="Donkervoort, Sandra" uniqKey="Donkervoort S" first="Sandra" last="Donkervoort">Sandra Donkervoort</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</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 wicri:level="3"><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
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<settlement type="city">Illkirch</settlement>
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</affiliation>
</author>
<author><name sortKey="Sutton, Roger Bryan" sort="Sutton, Roger Bryan" uniqKey="Sutton R" first="Roger Bryan" last="Sutton">Roger Bryan Sutton</name>
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<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cell Physiology and Molecular Biophysics, and Center for Membrane Protein Research, Texas Tech University Health Sciences Center, Lubbock, TX 79430</wicri:regionArea>
<placeName><region type="state">Texas</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Romero, Norma Beatriz" sort="Romero, Norma Beatriz" uniqKey="Romero N" first="Norma Beatriz" last="Romero">Norma Beatriz Romero</name>
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<country xml:lang="fr">France</country>
<wicri:regionArea>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</wicri:regionArea>
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<placeName><settlement type="city">Paris</settlement>
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<affiliation wicri:level="1"><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>
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</affiliation>
</author>
<author><name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris</wicri:regionArea>
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<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Dastgir, Jahannaz" sort="Dastgir, Jahannaz" uniqKey="Dastgir J" first="Jahannaz" last="Dastgir">Jahannaz Dastgir</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Waddell, Leigh B" sort="Waddell, Leigh B" uniqKey="Waddell L" first="Leigh B." last="Waddell">Leigh B. Waddell</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boland, Anne" sort="Boland, Anne" uniqKey="Boland A" first="Anne" last="Boland">Anne Boland</name>
<affiliation wicri:level="1"><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry</wicri:regionArea>
<wicri:noRegion>91057 Evry</wicri:noRegion>
<wicri:noRegion>91057 Evry</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hu, Ying" sort="Hu, Ying" uniqKey="Hu Y" first="Ying" last="Hu">Ying Hu</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Williams, Caitlin" sort="Williams, Caitlin" uniqKey="Williams C" first="Caitlin" last="Williams">Caitlin Williams</name>
<affiliation wicri:level="1"><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Biological Sciences, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Biological Sciences, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 7503 Paris</wicri:regionArea>
<wicri:noRegion>7503 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</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 wicri:level="4"><nlm:aff id="aff12">Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Radiology, Westmead Hospital, Western Clinical School, University of Sydney, Sydney, NSW 1024</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Reddel, Stephen W" sort="Reddel, Stephen W" uniqKey="Reddel S" first="Stephen W." last="Reddel">Stephen W. Reddel</name>
<affiliation wicri:level="4"><nlm:aff id="aff13">Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Neurology, Concord Clinical School, University of Sydney, Sydney, NSW 2139</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tukiainen, Taru" sort="Tukiainen, Taru" uniqKey="Tukiainen T" first="Taru" last="Tukiainen">Taru Tukiainen</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</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 wicri:level="2"><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Joshi, Himanshu" sort="Joshi, Himanshu" uniqKey="Joshi H" first="Himanshu" last="Joshi">Himanshu Joshi</name>
<affiliation wicri:level="1"><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>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name>
<affiliation wicri:level="1"><nlm:aff id="aff16">Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Biochimie et Génétique Moléculaire, HUPC Hôpital Cochin, Paris 75014</wicri:regionArea>
<wicri:noRegion>75014</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff17">INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U1016, Institut Cochin, CNRS UMR8104, Université Paris Descartes, Paris 75014</wicri:regionArea>
<wicri:noRegion>75014</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
<orgName type="university">Université Paris-Descartes</orgName>
</affiliation>
</author>
<author><name sortKey="Brammah, Susan" sort="Brammah, Susan" uniqKey="Brammah S" first="Susan" last="Brammah">Susan Brammah</name>
<affiliation wicri:level="1"><nlm:aff id="aff18">Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Electron Microscope Unit, Concord Repatriation General Hospital, Concord, NSW 2139</wicri:regionArea>
<wicri:noRegion>NSW 2139</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="aff11">Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre National de Génotypage, Institut de Génomique, CEA, CP5721, 91057 Evry</wicri:regionArea>
<wicri:noRegion>91057 Evry</wicri:noRegion>
<wicri:noRegion>91057 Evry</wicri:noRegion>
</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 wicri:level="1"><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name>
<affiliation wicri:level="1"><nlm:aff id="aff19">The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>The Clive and Vera Ramaciotti Centre for Structural Cryo-Electron Microscopy, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff20">Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ardicli, Didem" sort="Ardicli, Didem" uniqKey="Ardicli D" first="Didem" last="Ardicli">Didem Ardicli</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</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 wicri:level="1"><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>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Topaloglu, Haluk" sort="Topaloglu, Haluk" uniqKey="Topaloglu H" first="Haluk" last="Topaloglu">Haluk Topaloglu</name>
<affiliation wicri:level="1"><nlm:aff id="aff21">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara, Turkey</nlm:aff>
<country xml:lang="fr">Turquie</country>
<wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, 06100 Ankara</wicri:regionArea>
<wicri:noRegion>06100 Ankara</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<affiliation wicri:level="1"><nlm:aff id="aff22">Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Centre for Medical Research, The University of Western Australia & the Harry Perkins Institute of Medical Research, Perth, WA 6009</wicri:regionArea>
<wicri:noRegion>WA 6009</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff23">Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Children’s Research Institute, The Royal Children’s Hospital, Flemington Road, Parkville, VIC 3052</wicri:regionArea>
<wicri:noRegion>VIC 3052</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<affiliation wicri:level="2"><nlm:aff id="aff14">Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff15">Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Friant, Sylvie" sort="Friant, Sylvie" uniqKey="Friant S" first="Sylvie" last="Friant">Sylvie Friant</name>
<affiliation wicri:level="4"><nlm:aff id="aff6">Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Molecular and Cellular Genetics, UMR7156, Université de Strasbourg, CNRS, Strasbourg 67081</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
<settlement type="city">Strasbourg</settlement>
</placeName>
<orgName type="university">Université de Strasbourg</orgName>
</affiliation>
</author>
<author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name>
<affiliation wicri:level="1"><nlm:aff id="aff1">Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
<wicri:noRegion>NSW 2145</wicri:noRegion>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="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 wicri:level="1"><nlm:aff id="aff4">School of Biological Sciences, Monash University, Melbourne, VIC 3800, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Biological Sciences, Monash University, Melbourne, VIC 3800</wicri:regionArea>
<wicri:noRegion>VIC 3800</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Bonnemann, Carsten G" sort="Bonnemann, Carsten G" uniqKey="Bonnemann C" first="Carsten G." last="Bönnemann">Carsten G. Bönnemann</name>
<affiliation wicri:level="2"><nlm:aff id="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>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Institute of Neurological Disorders and Stroke Neurogenetics Branch, Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, Bethesda, MD 20892-1477</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<affiliation wicri:level="3"><nlm:aff id="aff5">Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), 67400 Illkirch</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
<settlement type="city">Illkirch</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff24">Université de Strasbourg, 67081 Illkirch, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université de Strasbourg, 67081 Illkirch</wicri:regionArea>
<placeName><region type="region" nuts="2">Grand Est</region>
<region type="old region" nuts="2">Alsace (région administrative)</region>
<settlement type="city">Illkirch</settlement>
<settlement type="city">Strasbourg</settlement>
</placeName>
<orgName type="university">Université de Strasbourg</orgName>
</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 wicri:level="1"><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>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Institute for Neuroscience and Muscle Research, Kid’s Research Institute, Children’s Hospital at Westmead, Sydney, NSW 2145</wicri:regionArea>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="aff2">Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Sydney, NSW 2006</wicri:regionArea>
<orgName type="university">Université de Sydney</orgName>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">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>
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</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Animals</term>
<term>COS Cells</term>
<term>Cell Nucleus (genetics)</term>
<term>Cell Nucleus (metabolism)</term>
<term>Cercopithecus aethiops</term>
<term>Cohort Studies</term>
<term>Creatine Kinase (genetics)</term>
<term>Creatine Kinase (metabolism)</term>
<term>Cytoplasm (metabolism)</term>
<term>Distal Myopathies (genetics)</term>
<term>Distal Myopathies (pathology)</term>
<term>ELAV-Like Protein 4 (genetics)</term>
<term>ELAV-Like Protein 4 (metabolism)</term>
<term>Female</term>
<term>Flavoproteins (metabolism)</term>
<term>Gene Deletion</term>
<term>Genetic Variation</term>
<term>Genome-Wide Association Study</term>
<term>Glutathione Reductase (genetics)</term>
<term>Glutathione Reductase (metabolism)</term>
<term>HEK293 Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Muscle, Skeletal (pathology)</term>
<term>Mutation, Missense</term>
<term>Myopathies, Structural, Congenital (genetics)</term>
<term>Myopathies, Structural, Congenital (pathology)</term>
<term>Oxidoreductases (genetics)</term>
<term>Oxidoreductases (metabolism)</term>
<term>Pedigree</term>
<term>Protein Conformation</term>
<term>Saccharomyces cerevisiae Proteins (genetics)</term>
<term>Saccharomyces cerevisiae Proteins (metabolism)</term>
<term>Zebrafish (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Animaux</term>
<term>Cellules COS</term>
<term>Cellules HEK293</term>
<term>Cercopithecus aethiops</term>
<term>Conformation des protéines</term>
<term>Creatine kinase (génétique)</term>
<term>Creatine kinase (métabolisme)</term>
<term>Cytoplasme (métabolisme)</term>
<term>Danio zébré (génétique)</term>
<term>Délétion de gène</term>
<term>Femelle</term>
<term>Flavoprotéines (métabolisme)</term>
<term>Glutathione reductase (génétique)</term>
<term>Glutathione reductase (métabolisme)</term>
<term>Humains</term>
<term>Muscles squelettiques (anatomopathologie)</term>
<term>Mutation faux-sens</term>
<term>Myopathies congénitales structurales (anatomopathologie)</term>
<term>Myopathies congénitales structurales (génétique)</term>
<term>Myopathies distales (anatomopathologie)</term>
<term>Myopathies distales (génétique)</term>
<term>Mâle</term>
<term>Noyau de la cellule (génétique)</term>
<term>Noyau de la cellule (métabolisme)</term>
<term>Oxidoreductases (génétique)</term>
<term>Oxidoreductases (métabolisme)</term>
<term>Pedigree</term>
<term>Protéine-4 similaire à ELAV (génétique)</term>
<term>Protéine-4 similaire à ELAV (métabolisme)</term>
<term>Protéines de Saccharomyces cerevisiae (génétique)</term>
<term>Protéines de Saccharomyces cerevisiae (métabolisme)</term>
<term>Séquence d'acides aminés</term>
<term>Variation génétique</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Creatine Kinase</term>
<term>ELAV-Like Protein 4</term>
<term>Glutathione Reductase</term>
<term>Oxidoreductases</term>
<term>Saccharomyces cerevisiae Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Muscles squelettiques</term>
<term>Myopathies congénitales structurales</term>
<term>Myopathies distales</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cell Nucleus</term>
<term>Distal Myopathies</term>
<term>Myopathies, Structural, Congenital</term>
<term>Zebrafish</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Creatine kinase</term>
<term>Danio zébré</term>
<term>Glutathione reductase</term>
<term>Myopathies congénitales structurales</term>
<term>Myopathies distales</term>
<term>Noyau de la cellule</term>
<term>Oxidoreductases</term>
<term>Protéine-4 similaire à ELAV</term>
<term>Protéines de Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Cell Nucleus</term>
<term>Creatine Kinase</term>
<term>Cytoplasm</term>
<term>ELAV-Like Protein 4</term>
<term>Flavoproteins</term>
<term>Glutathione Reductase</term>
<term>Oxidoreductases</term>
<term>Saccharomyces cerevisiae Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Creatine kinase</term>
<term>Cytoplasme</term>
<term>Flavoprotéines</term>
<term>Glutathione reductase</term>
<term>Noyau de la cellule</term>
<term>Oxidoreductases</term>
<term>Protéine-4 similaire à ELAV</term>
<term>Protéines de Saccharomyces cerevisiae</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Distal Myopathies</term>
<term>Muscle, Skeletal</term>
<term>Myopathies, Structural, Congenital</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Animals</term>
<term>COS Cells</term>
<term>Cercopithecus aethiops</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Deletion</term>
<term>Genetic Variation</term>
<term>Genome-Wide Association Study</term>
<term>HEK293 Cells</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation, Missense</term>
<term>Pedigree</term>
<term>Protein Conformation</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Animaux</term>
<term>Cellules COS</term>
<term>Cellules HEK293</term>
<term>Cercopithecus aethiops</term>
<term>Conformation des protéines</term>
<term>Délétion de gène</term>
<term>Femelle</term>
<term>Humains</term>
<term>Mutation faux-sens</term>
<term>Mâle</term>
<term>Pedigree</term>
<term>Séquence d'acides aminés</term>
<term>Variation génétique</term>
<term>Étude d'association pangénomique</term>
<term>Études de cohortes</term>
</keywords>
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<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>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Nouvelle-Zélande</li>
<li>Turquie</li>
<li>États-Unis</li>
</country>
<region><li>Alsace (région administrative)</li>
<li>Grand Est</li>
<li>Maryland</li>
<li>Massachusetts</li>
<li>Nouvelle-Galles du Sud</li>
<li>Texas</li>
<li>Île-de-France</li>
</region>
<settlement><li>Illkirch</li>
<li>Paris</li>
<li>Strasbourg</li>
<li>Sydney</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
<li>Université de Strasbourg</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="Australie"><noRegion><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>
</noRegion>
<name sortKey="Best, Heather A" sort="Best, Heather A" uniqKey="Best H" first="Heather A." last="Best">Heather A. Best</name>
<name sortKey="Best, Heather A" sort="Best, Heather A" uniqKey="Best H" first="Heather A." last="Best">Heather A. Best</name>
<name sortKey="Brammah, Susan" sort="Brammah, Susan" uniqKey="Brammah S" first="Susan" last="Brammah">Susan Brammah</name>
<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>
<name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name>
<name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name>
<name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T." last="Cooper">Sandra T. Cooper</name>
<name sortKey="Cooper, Sandra T" sort="Cooper, Sandra T" uniqKey="Cooper S" first="Sandra T." last="Cooper">Sandra T. Cooper</name>
<name sortKey="Ilkovski, Biljana" sort="Ilkovski, Biljana" uniqKey="Ilkovski B" first="Biljana" last="Ilkovski">Biljana Ilkovski</name>
<name sortKey="Ing, Viola Oorschot" sort="Ing, Viola Oorschot" uniqKey="Ing V" first="Viola Oorschot" last="Ing">Viola Oorschot Ing</name>
<name sortKey="Joshi, Himanshu" sort="Joshi, Himanshu" uniqKey="Joshi H" first="Himanshu" last="Joshi">Himanshu Joshi</name>
<name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name>
<name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name>
<name sortKey="North, Kathryn N" sort="North, Kathryn N" uniqKey="North K" first="Kathryn N." last="North">Kathryn N. North</name>
<name sortKey="Nowak, Kristen J" sort="Nowak, Kristen J" uniqKey="Nowak K" first="Kristen J." last="Nowak">Kristen J. Nowak</name>
<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>
<name sortKey="Peduto, Anthony J" sort="Peduto, Anthony J" uniqKey="Peduto A" first="Anthony J." last="Peduto">Anthony J. Peduto</name>
<name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name>
<name sortKey="Ramm, Georg" sort="Ramm, Georg" uniqKey="Ramm G" first="Georg" last="Ramm">Georg Ramm</name>
<name sortKey="Reddel, Stephen W" sort="Reddel, Stephen W" uniqKey="Reddel S" first="Stephen W." last="Reddel">Stephen W. Reddel</name>
<name sortKey="Ruparelia, Avnika A" sort="Ruparelia, Avnika A" uniqKey="Ruparelia A" first="Avnika A." last="Ruparelia">Avnika A. Ruparelia</name>
<name sortKey="Sztal, Tamar E" sort="Sztal, Tamar E" uniqKey="Sztal T" first="Tamar E." last="Sztal">Tamar E. Sztal</name>
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<name sortKey="Williams, Caitlin" sort="Williams, Caitlin" uniqKey="Williams C" first="Caitlin" last="Williams">Caitlin Williams</name>
</country>
<country name="Nouvelle-Zélande"><noRegion><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>
</noRegion>
</country>
<country name="France"><noRegion><name sortKey="Schartner, Vanessa" sort="Schartner, Vanessa" uniqKey="Schartner V" first="Vanessa" last="Schartner">Vanessa Schartner</name>
</noRegion>
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<name sortKey="Boland, Anne" sort="Boland, Anne" uniqKey="Boland A" first="Anne" last="Boland">Anne Boland</name>
<name sortKey="Deleuze, Jean Francois" sort="Deleuze, Jean Francois" uniqKey="Deleuze J" first="Jean-François" last="Deleuze">Jean-François Deleuze</name>
<name sortKey="Friant, Sylvie" sort="Friant, Sylvie" uniqKey="Friant S" first="Sylvie" last="Friant">Sylvie Friant</name>
<name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<name sortKey="Laporte, Jocelyn" sort="Laporte, Jocelyn" uniqKey="Laporte J" first="Jocelyn" last="Laporte">Jocelyn Laporte</name>
<name sortKey="Maisonobe, Thierry" sort="Maisonobe, Thierry" uniqKey="Maisonobe T" first="Thierry" last="Maisonobe">Thierry Maisonobe</name>
<name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name>
<name sortKey="Nectoux, Juliette" sort="Nectoux, Juliette" uniqKey="Nectoux J" first="Juliette" last="Nectoux">Juliette Nectoux</name>
<name sortKey="Romero, Norma Beatriz" sort="Romero, Norma Beatriz" uniqKey="Romero N" first="Norma Beatriz" last="Romero">Norma Beatriz Romero</name>
<name sortKey="Romero, Norma Beatriz" sort="Romero, Norma Beatriz" uniqKey="Romero N" first="Norma Beatriz" last="Romero">Norma Beatriz Romero</name>
<name sortKey="Sanjuan Vazquez, Myriam" sort="Sanjuan Vazquez, Myriam" uniqKey="Sanjuan Vazquez M" first="Myriam" last="Sanjuan-Vazquez">Myriam Sanjuan-Vazquez</name>
<name sortKey="Stojkovic, Tanya" sort="Stojkovic, Tanya" uniqKey="Stojkovic T" first="Tanya" last="Stojkovic">Tanya Stojkovic</name>
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<name sortKey="Cummings, Beryl B" sort="Cummings, Beryl B" uniqKey="Cummings B" first="Beryl B." last="Cummings">Beryl B. Cummings</name>
<name sortKey="Dastgir, Jahannaz" sort="Dastgir, Jahannaz" uniqKey="Dastgir J" first="Jahannaz" last="Dastgir">Jahannaz Dastgir</name>
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<name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<name sortKey="Sutton, Roger Bryan" sort="Sutton, Roger Bryan" uniqKey="Sutton R" first="Roger Bryan" last="Sutton">Roger Bryan Sutton</name>
<name sortKey="Tukiainen, Taru" sort="Tukiainen, Taru" uniqKey="Tukiainen T" first="Taru" last="Tukiainen">Taru Tukiainen</name>
<name sortKey="Tukiainen, Taru" sort="Tukiainen, Taru" uniqKey="Tukiainen T" first="Taru" last="Tukiainen">Taru Tukiainen</name>
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<country name="Turquie"><noRegion><name sortKey="Ardicli, Didem" sort="Ardicli, Didem" uniqKey="Ardicli D" first="Didem" last="Ardicli">Didem Ardicli</name>
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Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization

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