Nature Communications (Mar 2019)
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
- Montse Olivé,
- Martin Engvall,
- Gianina Ravenscroft,
- Macarena Cabrera-Serrano,
- Hong Jiao,
- Carlo Augusto Bortolotti,
- Marcello Pignataro,
- Matteo Lambrughi,
- Haibo Jiang,
- Alistair R. R. Forrest,
- Núria Benseny-Cases,
- Stefan Hofbauer,
- Christian Obinger,
- Gianantonio Battistuzzi,
- Marzia Bellei,
- Marco Borsari,
- Giulia Di Rocco,
- Helena M. Viola,
- Livia C. Hool,
- Josep Cladera,
- Kristina Lagerstedt-Robinson,
- Fengqing Xiang,
- Anna Wredenberg,
- Francesc Miralles,
- Juan José Baiges,
- Edoardo Malfatti,
- Norma B. Romero,
- Nathalie Streichenberger,
- Christophe Vial,
- Kristl G. Claeys,
- Chiara S. M. Straathof,
- An Goris,
- Christoph Freyer,
- Martin Lammens,
- Guillaume Bassez,
- Juha Kere,
- Paula Clemente,
- Thomas Sejersen,
- Bjarne Udd,
- Noemí Vidal,
- Isidre Ferrer,
- Lars Edström,
- Anna Wedell,
- Nigel G. Laing
Affiliations
- Montse Olivé
- Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
- Martin Engvall
- Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet
- Gianina Ravenscroft
- Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research
- Macarena Cabrera-Serrano
- Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío
- Hong Jiao
- Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet
- Carlo Augusto Bortolotti
- Department of Life Sciences, University of Modena and Reggio Emilia
- Marcello Pignataro
- Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia
- Matteo Lambrughi
- Department of Life Sciences, University of Modena and Reggio Emilia
- Haibo Jiang
- School of Molecular Sciences, The University of Western Australia
- Alistair R. R. Forrest
- Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research
- Núria Benseny-Cases
- ALBA Synchrotron Light Source, Cerdanyola del Vallès
- Stefan Hofbauer
- Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU—University of Natural Resources and Life Sciences
- Christian Obinger
- Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU—University of Natural Resources and Life Sciences
- Gianantonio Battistuzzi
- Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia
- Marzia Bellei
- Department of Life Sciences, University of Modena and Reggio Emilia
- Marco Borsari
- Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia
- Giulia Di Rocco
- Department of Life Sciences, University of Modena and Reggio Emilia
- Helena M. Viola
- School of Human Sciences, The University of Western Australia
- Livia C. Hool
- School of Human Sciences, The University of Western Australia
- Josep Cladera
- Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona
- Kristina Lagerstedt-Robinson
- Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Solna
- Fengqing Xiang
- Department of Women’s and Children’s Health, Karolinska Institutet
- Anna Wredenberg
- Centre for Inherited Metabolic Diseases, Karolinska University Hospital
- Francesc Miralles
- Neurology Department, Hospital Son Espases
- Juan José Baiges
- Neurology Department, Hospital Verge de la Cinta
- Edoardo Malfatti
- Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière
- Norma B. Romero
- Université Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière
- Nathalie Streichenberger
- Centre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Institut NeuroMyogène CNRS UMR 5310—INSERM U1217; Institut NeuroMyogène
- Christophe Vial
- Electromyographie—Groupement Hospitalier Est
- Kristl G. Claeys
- Department of Neurology, University Hospitals Leuven
- Chiara S. M. Straathof
- Department of Neurology, Leiden University Medical Center
- An Goris
- KU Leuven—University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology
- Christoph Freyer
- Centre for Inherited Metabolic Diseases, Karolinska University Hospital
- Martin Lammens
- Department of Pathology, Antwerp University Hospital
- Guillaume Bassez
- Neuromuscular Reference Center, Henri Mondor University Hospital AP-HP, INSERM U955, Team 10, Biology of the Neuromuscular System, East-Paris University (UPEC)
- Juha Kere
- Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet
- Paula Clemente
- Department of Medical Biochemistry and Biophysics, Karolinska Institutet
- Thomas Sejersen
- Department of Women’s and Children’s Health, Karolinska Institutet
- Bjarne Udd
- Neuromuscular Research Center, Tampere University Hospital, University of Tampere
- Noemí Vidal
- Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
- Isidre Ferrer
- Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat
- Lars Edström
- Center for Molecular Medicine, Karolinska Institutet
- Anna Wedell
- Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet
- Nigel G. Laing
- Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research
- DOI
- https://doi.org/10.1038/s41467-019-09111-2
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 14
Abstract
Myoglobin is a hemeprotein that reversibly binds oxygen and gives muscle its red color. Here, the authors report a genetic variant in the MB gene that associates with myoglobinopathy, an autosomal dominant progressive myopathy, and altered oxygen binding properties of the mutant protein.
