Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Nature Publishing Group
2019-03-01
|
| Series: | Nature Communications |
| Online Access: | https://doi.org/10.1038/s41467-019-09111-2 |
| id |
doaj-66b676bb69fb44be94c22654e712d730 |
|---|---|
| record_format |
Article |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions Nature Communications |
| author_facet |
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 |
| author_sort |
Montse Olivé |
| title |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| title_short |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| title_full |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| title_fullStr |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| title_full_unstemmed |
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| title_sort |
myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| publisher |
Nature Publishing Group |
| series |
Nature Communications |
| issn |
2041-1723 |
| publishDate |
2019-03-01 |
| description |
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. |
| url |
https://doi.org/10.1038/s41467-019-09111-2 |
| work_keys_str_mv |
AT montseolive myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT martinengvall myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT gianinaravenscroft myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT macarenacabreraserrano myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT hongjiao myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT carloaugustobortolotti myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT marcellopignataro myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT matteolambrughi myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT haibojiang myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT alistairrrforrest myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT nuriabensenycases myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT stefanhofbauer myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT christianobinger myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT gianantoniobattistuzzi myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT marziabellei myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT marcoborsari myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT giuliadirocco myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT helenamviola myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT liviachool myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT josepcladera myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT kristinalagerstedtrobinson myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT fengqingxiang myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT annawredenberg myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT francescmiralles myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT juanjosebaiges myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT edoardomalfatti myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT normabromero myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT nathaliestreichenberger myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT christophevial myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT kristlgclaeys myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT chiarasmstraathof myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT angoris myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT christophfreyer myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT martinlammens myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT guillaumebassez myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT juhakere myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT paulaclemente myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT thomassejersen myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT bjarneudd myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT noemividal myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT isidreferrer myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT larsedstrom myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT annawedell myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions AT nigelglaing myoglobinopathyisanadultonsetautosomaldominantmyopathywithcharacteristicsarcoplasmicinclusions |
| _version_ |
1721446528128647168 |
| spelling |
doaj-66b676bb69fb44be94c22654e712d7302021-05-11T11:27:54ZengNature Publishing GroupNature Communications2041-17232019-03-0110111410.1038/s41467-019-09111-2Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusionsMontse Olivé0Martin Engvall1Gianina Ravenscroft2Macarena Cabrera-Serrano3Hong Jiao4Carlo Augusto Bortolotti5Marcello Pignataro6Matteo Lambrughi7Haibo Jiang8Alistair R. R. Forrest9Núria Benseny-Cases10Stefan Hofbauer11Christian Obinger12Gianantonio Battistuzzi13Marzia Bellei14Marco Borsari15Giulia Di Rocco16Helena M. Viola17Livia C. Hool18Josep Cladera19Kristina Lagerstedt-Robinson20Fengqing Xiang21Anna Wredenberg22Francesc Miralles23Juan José Baiges24Edoardo Malfatti25Norma B. Romero26Nathalie Streichenberger27Christophe Vial28Kristl G. Claeys29Chiara S. M. Straathof30An Goris31Christoph Freyer32Martin Lammens33Guillaume Bassez34Juha Kere35Paula Clemente36Thomas Sejersen37Bjarne Udd38Noemí Vidal39Isidre Ferrer40Lars Edström41Anna Wedell42Nigel G. Laing43Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de LlobregatDepartment of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska InstitutetCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical ResearchNeurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del RocíoDepartment of Biosciences and Nutrition, Science for Life Laboratory, Karolinska InstitutetDepartment of Life Sciences, University of Modena and Reggio EmiliaDepartment of Chemical and Geological Sciences, University of Modena and Reggio EmiliaDepartment of Life Sciences, University of Modena and Reggio EmiliaSchool of Molecular Sciences, The University of Western AustraliaCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical ResearchALBA Synchrotron Light Source, Cerdanyola del VallèsDivision of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU—University of Natural Resources and Life SciencesDivision of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU—University of Natural Resources and Life SciencesDepartment of Chemical and Geological Sciences, University of Modena and Reggio EmiliaDepartment of Life Sciences, University of Modena and Reggio EmiliaDepartment of Chemical and Geological Sciences, University of Modena and Reggio EmiliaDepartment of Life Sciences, University of Modena and Reggio EmiliaSchool of Human Sciences, The University of Western AustraliaSchool of Human Sciences, The University of Western AustraliaUnitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de BarcelonaDepartment of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, SolnaDepartment of Women’s and Children’s Health, Karolinska InstitutetCentre for Inherited Metabolic Diseases, Karolinska University HospitalNeurology Department, Hospital Son EspasesNeurology Department, Hospital Verge de la CintaUniversité Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-SalpêtrièreUniversité Sorbonne, UPMC Univ Paris 06, INSERM; UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-SalpêtrièreCentre de Pathologie et Neuropathologie Est, Hospices Civils de Lyon; Université Claude Bernard Lyon1, Institut NeuroMyogène CNRS UMR 5310—INSERM U1217; Institut NeuroMyogèneElectromyographie—Groupement Hospitalier EstDepartment of Neurology, University Hospitals LeuvenDepartment of Neurology, Leiden University Medical CenterKU Leuven—University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental NeurologyCentre for Inherited Metabolic Diseases, Karolinska University HospitalDepartment of Pathology, Antwerp University HospitalNeuromuscular Reference Center, Henri Mondor University Hospital AP-HP, INSERM U955, Team 10, Biology of the Neuromuscular System, East-Paris University (UPEC)Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska InstitutetDepartment of Medical Biochemistry and Biophysics, Karolinska InstitutetDepartment of Women’s and Children’s Health, Karolinska InstitutetNeuromuscular Research Center, Tampere University Hospital, University of TampereNeuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de LlobregatNeuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de LlobregatCenter for Molecular Medicine, Karolinska InstitutetDepartment of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska InstitutetCentre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical ResearchMyoglobin 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.https://doi.org/10.1038/s41467-019-09111-2 |