Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Author:

Oates Emily C.1234,Jones Kristi J.23,Donkervoort Sandra5,Charlton Amanda36,Brammah Susan7,Smith John E.8ORCID,Ware James S.910,Yau Kyle S.11,Swanson Lindsay C.12,Whiffin Nicola910,Peduto Anthony J.1314,Bournazos Adam23ORCID,Waddell Leigh B.23,Farrar Michelle A.1516,Sampaio Hugo A.1516,Teoh Hooi Ling1516,Lamont Phillipa J.17,Mowat David1618,Fitzsimons Robin B.19,Corbett Alastair J.20,Ryan Monique M.212223,O'Grady Gina L.2324,Sandaradura Sarah A.23,Ghaoui Roula23,Joshi Himanshu2,Marshall Jamie L.2526,Nolan Melinda A.24,Kaur Simranpreet2,Punetha Jaya2728,Töpf Ana29,Harris Elizabeth29,Bakshi Madhura30,Genetti Casie A.12,Marttila Minttu12,Werlauff Ulla31,Streichenberger Nathalie3233,Pestronk Alan3435,Mazanti Ingrid36,Pinner Jason R.37,Vuillerot Carole3839ORCID,Grosmann Carla40,Camacho Ana41,Mohassel Payam5,Leach Meganne E.5,Foley A. Reghan5,Bharucha‐Goebel Diana542,Collins James43,Connolly Anne M.44,Gilbreath Heather R.45,Iannaccone Susan T.4647,Castro Diana4647,Cummings Beryl B.254849,Webster Richard I.50,Lazaro Leïla51,Vissing John52,Coppens Sandra5354,Deconinck Nicolas54,Luk Ho‐Ming55ORCID,Thomas Neil H.56,Foulds Nicola C.57,Illingworth Marjorie A.56,Ellard Sian5859,McLean Catriona A.6061,Phadke Rahul162,Ravenscroft Gianina63,Witting Nanna64ORCID,Hackman Peter65,Richard Isabelle66,Cooper Sandra T.23,Kamsteeg Erik‐Jan67,Hoffman Eric P.2728,Bushby Kate29,Straub Volker29,Udd Bjarne65686970,Ferreiro Ana7172,North Kathryn N.222,Clarke Nigel F.23,Lek Monkol2548,Beggs Alan H.12ORCID,Bönnemann Carsten G.5,MacArthur Daniel G.2548,Granzier Henk8,Davis Mark R.73,Laing Nigel G.63

Affiliation:

1. Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child HealthLondon United Kingdom

2. Institute for Neuroscience and Muscle ResearchKid's Research Institute, Children's Hospital at WestmeadSydney New South Wales Australia

3. Discipline of Child and Adolescent Health, Faculty of Medicine and HealthThe University of SydneySydney New South Wales Australia

4. School of Biotechnology and Biomolecular SciencesFaculty of Science, The University of New South WalesSydney New South Wales Australia

5. Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of HealthBethesda MD

6. Department of HistopathologyChildren's Hospital at WestmeadSydney New South Wales Australia

7. Electron Microscope Unit, Department of Anatomical PathologyConcord Repatriation General HospitalConcord, Sydney New South Wales Australia

8. Department of Cellular and Molecular MedicineUniversity of ArizonaTucson AZ

9. National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College LondonLondon United Kingdom

10. Royal Brompton and Harefield Hospitals NHS TrustLondon United Kingdom

11. Institute for Medical Research and Centre for Medical ResearchUniversity of Western AustraliaNedlands Western Australia Australia

12. Manton Center for Orphan Disease Research, Division of Genetics and GenomicsBoston Children's Hospital, Harvard Medical SchoolBoston MA

13. Department of RadiologyWestmead HospitalSydney New South Wales Australia

14. University of Sydney Western Clinical SchoolSydney New South Wales Australia

15. Department of NeurologySydney Children's HospitalSydney New South Wales Australia

16. School of Women's and Children's HealthUniversity of New South Wales SydneySydney New South Wales Australia

17. Neurogenetic Unit, Department of NeurologyRoyal Perth HospitalPerth Western Australia Australia

18. Department of Medical GeneticsSydney Children's HospitalSydney New South Wales Australia

19. Sydney Medical SchoolThe University of SydneySydney New South Wales Australia

20. Department of NeurologyConcord Repatriation General HospitalSydney New South Wales Australia

21. Department of NeurologyRoyal Children's HospitalParkville Victoria Australia

22. Murdoch Children's Research Institute, Royal Children's HospitalParkville Victoria Australia

23. University of MelbourneParkville Victoria Australia

24. Paediatric Neuroservices, Starship Child HealthAuckland New Zealand

25. Analytic and Translational Genetics Unit, Massachusetts General HospitalBoston MA

26. Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and HarvardCambridge MA

27. Research Center for Genetic Medicine, Children's National Medical CenterWashington DC

28. Department of Integrative Systems BiologyGeorge Washington University School of Medicine and Health SciencesWashington DC

29. John Walton Muscular Dystrophy Research Centre, Institute of Genetic MedicineNewcastle UniversityNewcastle upon Tyne United Kingdom

30. Department of Clinical GeneticsLiverpool HospitalSydney New South Wales Australia

31. Danish National Rehabilitation Center for Neuromuscular DiseasesAarhus Denmark

32. Neuropathology Department, Hospices Civils LyonClaude Bernard UniversityLyon1 France

33. NeuroMyogene InstituteCNRS UMR 5310, INSERM U1217Lyon France

34. Department of NeurologyWashington University School of MedicineSaint Louis MO

35. Department of Pathology and ImmunologyWashington University School of MedicineSaint Louis MO

36. Cellular PathologyUniversity Hospital Southampton NHS Foundation TrustSouthampton United Kingdom

37. Department of Medical GenomicsRoyal Prince Alfred HospitalCamperdown, Sydney New South Wales Australia

38. Woman‐Mother‐Child Hospital, Hospices Civils LyonBron France

39. Claude Bernard University Lyon1 France

40. University of California, San Diego/Rady Children's HospitalSan Diego CA

41. Child Neurology Unit, Department of Neurology, October 12 University Hospital, Faculty of MedicineComplutense UniversityMadrid Spain

42. Division of NeurologyChildren's National Health SystemWashington DC

43. Mercy Clinic Pediatric NeurologySpringfield MO

44. Neuromuscular Division, Departments of Neurology and PediatricsWashington University School of MedicineSaint Louis MO

45. Department of Advanced PracticeChildren's Medical Center of DallasDallas TX

46. Department of PediatricsUniversity of Texas Southwestern Medical CenterDallas TX

47. Department of Neurology and NeurotherapeuticsUniversity of Texas Southwestern Medical CenterDallas TX

48. Broad Institute of Harvard and Massachusetts Institute of TechnologyCambridge MA

49. Program in Biological and Biomedical Sciences, Harvard Medical SchoolBoston MA

50. T. Y. Nelson Department of Neurology and NeurosurgeryChildren's Hospital at WestmeadSydney New South Wales Australia

51. Pediatric Service, Basque Coast Hospital CenterBayonne France

52. Neuromuscular Clinic and Research Unit, Department of Neurology, RigshospitaletUniversity of CopenhagenCopenhagen Denmark

53. Department of Pediatric Neurology, Neuromuscular Reference Center, Erasmus HospitalFree University of BrusselsBrussels Belgium

54. Department of Pediatric Neurology, Neuromuscular Reference Center, Queen Fabiola Children's University HospitalFree University of BrusselsBrussels Belgium

55. Clinical Genetic Service, Department of HealthHong Kong China

56. Department of Paediatric NeurologyUniversity Hospital Southampton NHS Foundation TrustSouthampton United Kingdom

57. Wessex Clinical Genetics ServiceUniversity Hospital Southampton NHS Foundation TrustSouthampton United Kingdom

58. University of Exeter Medical SchoolExeter United Kingdom

59. Department of Molecular GeneticsRoyal Devon and Exeter NHS Foundation TrustExeter United Kingdom

60. Department of Anatomical PathologyAlfred HospitalMelbourne Victoria Australia

61. Faculty of Medicine, Nursing, and Health SciencesMonash UniversityMelbourne Victoria Australia

62. National Hospital for Neurology and Neurosurgery, UCL Institute of NeurologyLondon United Kingdom

63. Harry Perkins InstituteUniversity of Western AustraliaNedlands Western Australia Australia

64. Copenhagen Neuromuscular Unit and Department of Neurology, RigshospitaletCopenhagen UniversityCopenhagen Denmark

65. Folkhälsan Institute of Genetics, MedicumUniversity of HelsinkiHelsinki Finland

66. Généthon, INSERM U951, INTEGRARE Research UnitÉvry France

67. Department of Human GeneticsRadboud University Medical CenterNijmegen the Netherlands

68. Neuromuscular Research CenterTampere University and University Hospital, NeurologyTampere Finland

69. Department of Medical GeneticsUniversity of HelsinkiHelsinki Finland

70. Vaasa Central Hospital, Department of NeurologyVaasa Finland

71. Pathophysiology of Striated Muscles Laboratory, Unit of Functional and Adaptative Biology, BFAParis Diderot University/CNRS, Sorbonne Paris CitéParis France

72. Public Hospital Network of Paris, Paris‐East Reference Center Neuromuscular Diseases, Pitié‐Salpêtrière Hospital GroupParis France

73. Department of Diagnostic GenomicsPathWest Laboratory Medicine WANedlands Western Australia Australia

Funder

Royal Australasian College of Physicians

NHMRC

NIH

Muscular Dystrophy Association

National Institute of Child Health and Human Development

National Human Genome Research Institute

National Eye Institute

National Heart, Lung, and Blood Institute

Wellcome Trust

NIH Clinical Center

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Association Française contre les Myopathies

National Institute of Neurological Disorders and Stroke

National Institutes of Health

NIHR

Publisher

Wiley

Subject

Clinical Neurology,Neurology

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