Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Adult Female Heart Failure / etiology Heme / metabolism Humans Inclusion Bodies / pathology Male Middle Aged Muscle Fibers, Skeletal / pathology Muscle Weakness / genetics Muscle, Skeletal / diagnostic imaging Muscular Diseases / diagnostic imaging Mutation Myocytes, Cardiac / pathology Myoglobin / genetics Oxygen / metabolism Pedigree Respiratory Insufficiency / etiology Superoxides / metabolism Tomography, X-Ray Computed White People / genetics

Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
27 03 2019
Historique:
received: 14 09 2017
accepted: 14 02 2019
entrez: 29 3 2019
pubmed: 29 3 2019
medline: 23 4 2019
Statut: epublish

Résumé

Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O

Identifiants

DOI: 10.1038/s41467-019-09111-2 PMID: 30918256 PMC: PMC6437160
pubmed: 30918256
doi: 10.1038/s41467-019-09111-2
pii: 10.1038/s41467-019-09111-2
pmc: PMC6437160
doi:

Substances chimiques

Myoglobin 0
Superoxides 11062-77-4
Heme 42VZT0U6YR
Oxygen S88TT14065

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1396

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Auteurs

Montse 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.
ORCID: 0000-0001-5727-0165

Martin Engvall (M)

Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.

Gianina Ravenscroft (G)

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.

Macarena Cabrera-Serrano (M)

Neurology Department and Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío, Seville, 41013, Spain.

Hong Jiao (H)

Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden.
Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden.

Carlo Augusto Bortolotti (CA)

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
ORCID: 0000-0002-5701-5727

Marcello Pignataro (M)

Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
ORCID: 0000-0003-0058-3659

Matteo Lambrughi (M)

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.

Haibo Jiang (H)

School of Molecular Sciences, The University of Western Australia, 35 Stirling Highway, Crawley, 6009, WA, Australia.

Alistair R R Forrest (ARR)

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia.

Núria Benseny-Cases (N)

ALBA Synchrotron Light Source, Cerdanyola del Vallès, Barcelona, 08290, Spain.

Stefan Hofbauer (S)

Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria.
ORCID: 0000-0003-3375-7715

Christian Obinger (C)

Division of Biochemistry, Department of Chemistry, Vienna Institute of BioTechnology, BOKU-University of Natural Resources and Life Sciences, Vienna, A-1180, Austria.
ORCID: 0000-0002-7133-3430

Gianantonio Battistuzzi (G)

Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.

Marzia Bellei (M)

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.

Marco Borsari (M)

Department of Chemical and Geological Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.
ORCID: 0000-0002-3612-4764

Giulia Di Rocco (G)

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, 41121, Italy.

Helena M Viola (HM)

School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia.

Livia C Hool (LC)

School of Human Sciences, The University of Western Australia, Perth, 6000, Western Australia, Australia.
Victor Chang Cardiac Research Institute, Darlinghurst, 2010, NSW, Australia.

Josep Cladera (J)

Unitat de Biofísica, Departament de Bioquímica i de Biologia Molecular, Facultat de Medicina, Universitat Autònoma de Barcelona, Bellaterra, 08193, Spain.

Kristina Lagerstedt-Robinson (K)

Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, SE-17176, Sweden.

Fengqing Xiang (F)

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, SE-17177, Sweden.

Anna Wredenberg (A)

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.

Francesc Miralles (F)

Neurology Department, Hospital Son Espases, Palma de Mallorca, 07120, Spain.

Juan José Baiges (JJ)

Neurology Department, Hospital Verge de la Cinta, Tortosa, 43500, Spain.

Edoardo Malfatti (E)

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.
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.

Norma B Romero (NB)

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.
Centre de Référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, 75013, France.

Nathalie Streichenberger (N)

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.

Christophe Vial (C)

Electromyographie-Groupement Hospitalier Est, Hospices Civils de Lyon, 69677, France.

Kristl G Claeys (KG)

Department of Neurology, University Hospitals Leuven, Leuven, 2333, Belgium.
KU Leuven-University of Leuven, Laboratory for Muscle diseases and Neuropathies, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.

Chiara S M Straathof (CSM)

Department of Neurology, Leiden University Medical Center, Leiden, 2333, The Netherlands.

An Goris (A)

KU Leuven-University of Leuven, Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology, Leuven, 2333, Belgium.

Christoph Freyer (C)

Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.
ORCID: 0000-0003-0418-1673

Martin Lammens (M)

Department of Pathology, Antwerp University Hospital, Edegem, 2650, Belgium.
Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Wilrijk, 2610, Belgium.
Department of Pathology, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.

Guillaume Bassez (G)

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.

Juha Kere (J)

Department of Biosciences and Nutrition, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-14157, Sweden.
Clinical Research Centre, Karolinska University Hospital, Huddinge, SE-17177, Sweden.
Molecular Neurology Research Program, University of Helsinki and Folkhälsan Institute of Genetics, Helsinki, 00014, Finland.
School of Basic and Medical Biosciences, King's College London, London, WC2R2LS, UK.
ORCID: 0000-0003-1974-0271

Paula Clemente (P)

Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, SE-17177, Sweden.

Thomas Sejersen (T)

Department of Women's and Children's Health, Karolinska Institutet, Stockholm, SE-17177, Sweden.
ORCID: 0000-0001-5961-7097

Bjarne Udd (B)

Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 33521, Finland.
Folkhälsan Genetic Institute, University of Helsinki, Helsinki, 00250, Finland.
Neurology Department, Vasa Central Hospital, Vasa, Finland Neuromuscular Research Center, Tampere University Hospital, University of Tampere, Tampere, 65100, Finland.

Noemí Vidal (N)

Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain.

Isidre Ferrer (I)

Neuropathology Unit, Department of Pathology and Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, 08907, Spain.
Department of Pathology and Experimental Therapeutics, University of Barcelona, CIBERNEDHospitalet de LLobregat, Barcelona, 08907, Spain.

Lars Edström (L)

Center for Molecular Medicine, Karolinska Institutet, Stockolm, 17177, Sweden.

Anna Wedell (A)

Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet, Stockholm, SE-17176, Sweden.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SE-17177, Sweden.

Nigel G Laing (NG)

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, 6000, WA, Australia. nigel.laing@uwa.edu.au.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Défaillance cardiaque › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Facteurs biologiques › Pigments biologiques › Porphyrines › Métalloporphyrines › Hème › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Cellules › Structures cellulaires › Corps d'inclusion › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Cellules › Cellules musculaires › Fibres musculaires squelettiques › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Manifestations neuromusculaires › Faiblesse musculaire › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Tissus › Muscles › Muscle strié › Muscles squelettiques › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Cellules › Cellules musculaires › Myocytes cardiaques › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Hémoprotéines › Globines › Myoglobine › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Produits chimiques inorganiques › Gaz › Oxygène › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Troubles respiratoires › Insuffisance respiratoire › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Composés chimiques organiques › Radicaux libres › Peroxydes › Superoxydes › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Tomographie à rayons X › Tomodensitométrie › Myoglobinopathy is an adult-onset autosomal...
questionsmedicales.fr › Personnes › Blancs › Myoglobinopathy is an adult-onset autosomal...