换一批
换一批Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
作者：
Ana,Töpf [1]
;
Dan,Cox [2]
;
Irina T,Zaharieva [3]
;
Valeria,Di Leo [4]
;
Jaakko,Sarparanta [5]
;
Per Harald,Jonson [5]
;
Ian M,Sealy [6]
;
Andrei,Smolnikov [7]
;
Richard J,White [6]
;
Anna,Vihola [8]
;
Marco,Savarese [5]
;
Munise,Merteroglu [9]
;
Neha,Wali [10]
;
Kristen M,Laricchia [11]
;
Cristina,Venturini [12]
;
Bas,Vroling [13]
;
Sarah L,Stenton [14]
;
Beryl B,Cummings [15]
;
Elizabeth,Harris [16]
;
Chiara,Marini-Bettolo [2]
;
Jordi,Diaz-Manera [2]
;
Matt,Henderson [17]
;
Rita,Barresi [18]
;
Jennifer,Duff [2]
;
Eleina M,England [19]
;
Jane,Patrick [10]
;
Sundos,Al-Husayni [20]
;
Valerie,Biancalana [21]
;
Alan H,Beggs [20]
;
Istvan,Bodi [22]
;
Shobhana,Bommireddipalli [23]
;
Carsten G,Bönnemann [24]
;
Anita,Cairns [25]
;
Mei-Ting,Chiew [26]
;
Kristl G,Claeys [27]
;
Sandra T,Cooper [23]
;
Mark R,Davis [26]
;
Sandra,Donkervoort [24]
;
Corrie E,Erasmus [28]
;
Mahmoud R,Fassad [29]
;
Casie A,Genetti [20]
;
Carla,Grosmann [30]
;
Heinz,Jungbluth [31]
;
Erik-Jan,Kamsteeg [32]
;
Xavière,Lornage [21]
;
Wolfgang N,Löscher [33]
;
Edoardo,Malfatti [34]
;
Adnan,Manzur [3]
;
Pilar,Martí [35]
;
Tiziana E,Mongini [36]
;
Nuria,Muelas [37]
;
Atsuko,Nishikawa [38]
;
Anne,O'Donnell-Luria [14]
;
Narumi,Ogonuki [39]
;
Gina L,O'Grady [40]
;
Emily,O'Heir [19]
;
Stéphanie,Paquay [41]
;
Rahul,Phadke [3]
;
Beth A,Pletcher [42]
;
Norma B,Romero [43]
;
Meyke,Schouten [32]
;
Snehal,Shah [44]
;
Izelle,Smuts [45]
;
Yves,Sznajer [46]
;
Giorgio,Tasca [2]
;
Robert W,Taylor [29]
;
Allysa,Tuite [42]
;
Peter,Van den Bergh [41]
;
Grace,VanNoy [19]
;
Nicol C,Voermans [47]
;
Julia V,Wanschitz [33]
;
Elizabeth,Wraige [48]
;
Kimihiko,Yoshimura [49]
;
Emily C,Oates [7]
;
Osamu,Nakagawa [50]
;
Ichizo,Nishino [38]
;
Jocelyn,Laporte [21]
;
Juan J,Vilchez [35]
;
Daniel G,MacArthur [51]
;
Anna,Sarkozy [3]
;
Heather J,Cordell [52]
;
Bjarne,Udd [8]
;
Elisabeth M,Busch-Nentwich [6]
;
Francesco,Muntoni [53]
;
Volker,Straub [54]
作者单位：
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. ana.topf@ncl.ac.uk.
[1]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[2]
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.
[3]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.;Department of Life Sciences, University of Trieste, Trieste, Italy.
[4]
Folkhälsan Research Center, Helsinki, Finland.;Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
[5]
School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.;Cambridge Institute of Therapeutic Immunology & Infectious Disease (CITIID), Department of Medicine, Jeffrey Cheah Biomedical Centre, University of Cambridge, Cambridge, UK.
[6]
School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, New South Wales, Australia.
[7]
Folkhälsan Research Center, Helsinki, Finland.;Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.;Neuromuscular Research Centre, Tampere University and University Hospital, Tampere, Finland.
[8]
School of Biological and Behavioural Sciences, Queen Mary University of London, London, UK.;Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.
[9]
Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
[10]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
[11]
Division of Infection and Immunity, University College London, London, UK.
[12]
Bio-Prodict, Nijmegen, The Netherlands.
[13]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.
[14]
Laboratory of Angiogenesis and Cancer Metabolism, Department of Biology, University of Padua, Padua, Italy.
[15]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.;Northern Genetics Service, Institute of Genetics Medicine, Newcastle upon Tyne, UK.
[16]
Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[17]
IRCCS San Camillo Hospital, Venice, Italy.
[18]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[19]
The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
[20]
Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Université de Strasbourg, Illkirch, France.
[21]
Department of Clinical Neuropathology, King's College Hospital NHS Foundation Trust, London, UK.
[22]
Kids Neuroscience Centre, the Children's Hospital at Westmead, the University of Sydney and the Children's Medical Research Institute, Westmead, New South Wales, Australia.
[23]
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
[24]
Neurosciences Department, Queensland Children's Hospital, Brisbane, Queensland, Australia.
[25]
Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia.
[26]
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.;Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, Leuven, Belgium.
[27]
Department of Paediatric Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Amalia Children's Hospital, Nijmegen, The Netherlands.
[28]
Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.;NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
[29]
Department of Neurology, Rady Children's Hospital University of California San Diego, San Diego, CA, USA.
[30]
Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.;Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK.
[31]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[32]
Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
[33]
APHP, Neuromuscular Reference Center Nord-Est-Ile-de-France, Henri Mondor Hospital, Université Paris Est, U955, INSERM, Creteil, France.
[34]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.;Neuromuscular Research Group, IIS La Fe, Valencia, Spain.
[35]
Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino, Torino, Italy.
[36]
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.;Neuromuscular Research Group, IIS La Fe, Valencia, Spain.;Department of Medicine, Universitat de Valencia, Valencia, Spain.;Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Valencia, Spain.
[37]
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
[38]
RIKEN BioResource Research Center, Tsukuba, Japan.
[39]
Starship Children's Health, Auckland District Health Board, Auckland, New Zealand.
[40]
Cliniques Universitaires St-Luc, Centre de Référence Neuromusculaire, Université de Louvain, Brussels, Belgium.
[41]
Division of Clinical Genetics, Department of Pediatrics, Rutgers New Jersey Medical School, Newark, NJ, USA.
[42]
Neuromuscular Morphology Unit, Myology Institute, Sorbonne Université, Centre de Référence de Pathologie Neuromusculaire Nord/Est/Ile-de-France (APHP), GH Pitié-Salpêtrière, Paris, France.
[43]
Department of Neurology, Perth Children's Hospital, Nedlands, Western Australia, Australia.
[44]
Department of Paediatrics, Steve Biko Academic Hospital, University of Pretoria, Pretoria, South Africa.
[45]
Center for Human Genetic, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.
[46]
Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Centre, Nijmegen, The Netherlands.
[47]
Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, UK.
[48]
Department Neurology, Nankoku Hospital, Kochi, Japan.
[49]
Department of Molecular Physiology, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
[50]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.;Centre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, New South Wales, Australia.;Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
[51]
Population Health Sciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
[52]
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital, London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health, UCL & Great Ormond Street Hospital Trust, London, UK.
[53]
John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK. volker.straub@ncl.ac.uk.
[54]
主题词
动物(Animals);人类(Humans);男(雄)性(Male);肌, 骨骼(Muscle, Skeletal);肌疾病(Muscular Diseases);突变(Mutation);斑马鱼(Zebrafish)
DOI
10.1038/s41588-023-01651-0
PMID
38429495
发布时间
2025-01-04
- 浏览0
Nature genetics
Nature genetics
395-407页
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