Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Olivé i Plana, Montserrat (Institut d'Investigació Biomèdica de Bellvitge)
Engvall, Martin (Karolinska University Hospital and Karolinska Institutet (Suècia))
Ravenscroft, Gianina (University of Western Australia. Harry Perkins Institute of Medical Research)
Cabrera-Serrano, Macarena (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
Jiao, Hong (Karolinska University Hospital and Karolinska Institutet (Suècia))
Bortolotti, Carlo Augusto (University of Modena and Reggio Emilia)
Pignataro, Marcello (University of Modena and Reggio Emilia)
Lambrughi, Matteo (University of Modena and Reggio Emilia)
Jiang, Haibo (The University of Western Australia)
Forrest, Alistair R. R. (University of Western Australia. Harry Perkins Institute of Medical Research)
Benseny Cases, Núria (Laboratori de Llum del Sincrotró ALBA)
Hofbauer, Stefan (BOKU-University of Natural Resources and Life Sciences)
Obinger, Christian (BOKU-University of Natural Resources and Life Sciences)
Battistuzzi, Gianantonio (University of Modena and Reggio Emilia)
Bellei, Marzia (University of Modena and Reggio Emilia)
Borsari, Marco (University of Modena and Reggio Emilia)
Di Rocco, Giulia (University of Modena and Reggio Emilia)
Viola, Helena M. (The University of Western Australia)
Hool, Livia C. (Victor Chang Cardiac Research Institute)
Cladera i Cerdà, Josep (Universitat Autònoma de Barcelona. Departament de Bioquímica i de Biologia Molecular)
Lagerstedt-Robinson, Kristina (Karolinska University Hospital and Karolinska Institutet (Suècia))
Xiang, Fengqing (Karolinska Institutet (Estocolm, Suècia))
Wredenberg, Anna (Karolinska Institutet (Estocolm, Suècia))
Miralles, Francesc (Hospital Universitari Son Espases (Palma de Mallorca, Balears))
Baiges, Juanjo (Hospital de Tortosa Verge de la Cinta)
Malfatti, Edoardo (Centre de Référence de Pathologie Neuromusculaire Paris-Est)
Romero, Norma B. (Centre de Référence de Pathologie Neuromusculaire Paris-Est)
Streichenberger, Nathalie (Université Claude Bernard Lyon)
Vial, Christophe (Electromyographie-Groupement Hospitalier Est)
Claeys, Kristl G. (KU Leuven-University of Leuven)
Straathof, Chiara S. M. (Leiden University Medical Center)
Goris, An (KU Leuven-University of Leuven)
Freyer, Christoph (Karolinska Institutet (Estocolm, Suècia))
Lammens, Martin (Radboud University Medical Center)
Bassez, Guillaume (East-Paris University (UPEC))
Kere, Juha (King's College London)
Clemente, Paula (Karolinska Institutet (Estocolm, Suècia))
Sejersen, Thomas (Karolinska Institutet (Estocolm, Suècia))
Udd, Bjarne (Tampere University Hospital)
Vidal, Noemí (Institut d'Investigació Biomèdica de Bellvitge)
Ferrer, Isidro (Universitat de Barcelona)
Edström, Lars (Karolinska Institutet (Estocolm, Suècia))
Wedell, Anna (Karolinska University Hospital and Karolinska Institutet (Suècia))
Laing, Nigel G. (University of Western Australia. Harry Perkins Institute of Medical Research)

Date:	2019
Abstract:	Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c. 292C.
Grants:	Instituto de Salud Carlos III PI14-00738 Instituto de Salud Carlos III JR15-00042
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	Adult ; European Continental Ancestry Group ; Female ; Heart Failure ; Heme ; Humans ; Inclusion Bodies ; Male ; Middle Aged ; Muscle Fibers, Skeletal ; Muscle Weakness ; Muscle, Skeletal ; Muscular Diseases ; Mutation ; Myocytes, Cardiac ; Myoglobin ; Oxygen ; Pedigree ; Respiratory Insufficiency ; Superoxides ; Tomography, X-Ray Computed
Published in:	Nature communications, Vol. 10 (March 2019) , art. 1396, ISSN 2041-1723

DOI: 10.1038/s41467-019-09111-2
PMID: 30918256

14 p, 2.6 MB

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Research literature > UAB research groups literature > Research Centres and Groups (research output) > Experimental sciences > The ALBA Synchrotron
Articles > Research articles
Articles > Published articles