换一批
换一批Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
作者：
Montse,Olivé [1]
;
Martin,Engvall [2]
;
Gianina,Ravenscroft [3]
;
Macarena,Cabrera-Serrano [4]
;
Hong,Jiao [5]
;
Carlo Augusto,Bortolotti [6]
;
Marcello,Pignataro [7]
;
Matteo,Lambrughi [8]
;
Haibo,Jiang [9]
;
Alistair R R,Forrest [8]
;
Núria,Benseny-Cases [10]
;
Stefan,Hofbauer [4]
;
Christian,Obinger [11]
;
Gianantonio,Battistuzzi [12]
;
Marzia,Bellei [12]
;
Marco,Borsari [9]
;
Giulia,Di Rocco [8]
;
Helena M,Viola [9]
;
Livia C,Hool [8]
;
Josep,Cladera [13]
;
Kristina,Lagerstedt-Robinson [13]
;
Fengqing,Xiang [14]
;
Anna,Wredenberg [15]
;
Francesc,Miralles [16]
;
Juan José,Baiges [17]
;
Edoardo,Malfatti [3]
;
Norma B,Romero [18]
;
Nathalie,Streichenberger [19]
;
Christophe,Vial [20]
;
Kristl G,Claeys [21]
;
Chiara S M,Straathof [22]
;
An,Goris [21]
;
Christoph,Freyer [22]
;
Martin,Lammens [23]
;
Guillaume,Bassez [24]
;
Juha,Kere [25]
;
Paula,Clemente [26]
;
Thomas,Sejersen [27]
;
Bjarne,Udd [28]
;
Noemí,Vidal [3]
;
Isidre,Ferrer [18]
;
Lars,Edström [29]
;
Anna,Wedell [30]
;
Nigel G,Laing [31]
作者单位：
Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain. montseolivep@gmail.com.
[1]
Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden.
[2]
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
[3]
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.
[4]
Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
[5]
Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden.
[6]
Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden.
[7]
Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
[8]
Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
[9]
School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia.
[10]
ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain.
[11]
Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria.
[12]
School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia.
[13]
Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia.
[14]
Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.
[15]
Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, SE-17176, Sweden.
[16]
Department of Women's and Children's Health, Karolinska Institutet, Stockholm, SE-17177, Sweden.
[17]
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.
[18]
Neurology Department, Hospital Son Espases, Palma de Mallorca, 07120, Spain.
[19]
Neurology Department, Hospital Verge de la Cinta, Tortosa, 43500, Spain.
[20]
Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013, Paris, France.
[21]
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.
[22]
Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Institut NeuroMyogène CNRS UMR 5310-INSERM U1217; Institut NeuroMyogène, Villeurbanne, 69677, France.
[23]
Electromyographie-Groupement Hospitalier Est, Hospices Civils de Lyon, 69677, France.
[24]
Department of Neurology, University Hospitals Leuven, Leuven, 2333, Belgium.
[25]
KU Leuven-University of Leuven, Laboratory for Muscle diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.
[26]
Department of Neurology, Leiden University Medical Center, Leiden, 2333, The Netherlands.
[27]
KU Leuven-University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.
[28]
Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium.
[29]
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, 2610, Belgium.
[30]
Department of Pathology, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
[31]
Neuromuscular Reference Center, Henri Mondor University Hospital AP-HP, INSERM U955, Team 10, Biology of the Neuromuscular System, East-Paris University (UPEC), Paris, 94010, France.
[32]
Molecular Neurology Research Program, University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, 00014, Finland.
[33]
School of Basic and Medical Biosciences, King's College London, London, WC2R2LS, UK.
[34]
Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 33521, Finland.
[35]
Folkhälsan Genetic Institute, University of Helsinki, Helsinki, 00250, Finland.
[36]
Neurology Department, Vasa Central Hospital, Vasa, Finland Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 65100, Finland.
[37]
Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain.
[38]
Department of Pathology and Experimental Therapeutics, University of Barcelona, CIBERNEDHospitalet de LLobregat, Barcelona, 08907, Spain.
[39]
Center for Molecular Medicine, Karolinska Institutet, Stockolm, 17177, Sweden.
[40]
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. nigel.laing@uwa.edu.au.
[41]
主题词
成年人(Adult);女(雌)性(Female);心力衰竭(Heart Failure);血红素(Heme);人类(Humans);包涵体(Inclusion Bodies);男(雄)性(Male);中年人(Middle Aged);肌纤维, 骨骼(Muscle Fibers, Skeletal);肌无力(Muscle Weakness);肌, 骨骼(Muscle, Skeletal);肌疾病(Muscular Diseases);突变(Mutation);肌细胞, 心脏(Myocytes, Cardiac);肌红蛋白(Myoglobin);氧(Oxygen);系谱(Pedigree);呼吸功能不全(Respiratory Insufficiency);超氧化物类(Superoxides);体层摄影术, X线计算机(Tomography, X-Ray Computed)
DOI
10.1038/s41467-019-09111-2
PMID
30918256
发布时间
2022-12-07
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Nature communications
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