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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
Olivé, Montse; Engvall, Martin; Ravenscroft, Gianina; Cabrera-Serrano, Macarena; Jiao, Hong; Bortolotti, Carlo Augusto; Pignataro, Marcello; Lambrughi, Matteo; Jiang, Haibo; Forrest, Alistair R R; Benseny-Cases, Núria; Hofbauer, Stefan; Obinger, Christian; Battistuzzi, Gianantonio; Bellei, Marzia; Borsari, Marco; Di Rocco, Giulia; Viola, Helena M; Hool, Livia C; Cladera, Josep; Lagerstedt-Robinson, Kristina; Xiang, Fengqing; Wredenberg, Anna; Miralles, Francesc; Baiges, Juan José; Malfatti, Edoardo; Romero, Norma B; Streichenberger, Nathalie; Vial, Christophe; Claeys, Kristl G; Straathof, Chiara S M; Goris, An; Freyer, Christoph; Lammens, Martin; Bassez, Guillaume; Kere, Juha; Clemente, Paula; Sejersen, Thomas; Udd, Bjarne; Vidal, Noemí; Ferrer, Isidre; Edström, Lars; Wedell, Anna; Laing, Nigel G.
Afiliación
  • Olivé M; Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain. montseolivep@gmail.com.
  • Engvall M; Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden.
  • Ravenscroft G; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
  • Cabrera-Serrano M; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.
  • Jiao H; Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.
  • Bortolotti CA; Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden.
  • Pignataro M; Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden.
  • Lambrughi M; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Jiang H; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Forrest ARR; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Benseny-Cases N; School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia.
  • Hofbauer S; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.
  • Obinger C; ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain.
  • Battistuzzi G; Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria.
  • Bellei M; Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria.
  • Borsari M; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Di Rocco G; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Viola HM; Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Hool LC; Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
  • Cladera J; School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia.
  • Lagerstedt-Robinson K; School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia.
  • Xiang F; Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia.
  • Wredenberg A; Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.
  • Miralles F; Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, SE-17176, Sweden.
  • Baiges JJ; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, SE-17177, Sweden.
  • Malfatti E; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
  • Romero NB; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.
  • Streichenberger N; Neurology Department, Hospital Son Espases, Palma de Mallorca, 07120, Spain.
  • Vial C; Neurology Department, Hospital Verge de la Cinta, Tortosa, 43500, Spain.
  • Claeys KG; 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.
  • Straathof CSM; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.
  • Goris A; 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.
  • Freyer C; Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.
  • Lammens M; 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.
  • Bassez G; Electromyographie-Groupement Hospitalier Est, Hospices Civils de Lyon, 69677, France.
  • Kere J; Department of Neurology, University Hospitals Leuven, Leuven, 2333, Belgium.
  • Clemente P; KU Leuven-University of Leuven, Laboratory for Muscle diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.
  • Sejersen T; Department of Neurology, Leiden University Medical Center, Leiden, 2333, The Netherlands.
  • Udd B; KU Leuven-University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.
  • Vidal N; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
  • Ferrer I; Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.
  • Edström L; Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium.
  • Wedell A; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, 2610, Belgium.
  • Laing NG; Department of Pathology, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.
Nat Commun ; 10(1): 1396, 2019 03 27.
Article en En | MEDLINE | ID: mdl-30918256
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cuerpos de Inclusión / Fibras Musculares Esqueléticas / Debilidad Muscular / Miocitos Cardíacos / Enfermedades Musculares / Mioglobina Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: España
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cuerpos de Inclusión / Fibras Musculares Esqueléticas / Debilidad Muscular / Miocitos Cardíacos / Enfermedades Musculares / Mioglobina Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: España