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.

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/66b676bb69fb44be94c22654e712d730
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spelling	oai:doaj.org-article:66b676bb69fb44be94c22654e712d7302021-12-02T16:57:05ZMyoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions10.1038/s41467-019-09111-22041-1723https://doaj.org/article/66b676bb69fb44be94c22654e712d7302019-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09111-2https://doaj.org/toc/2041-1723Myoglobin 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.Montse OlivéMartin EngvallGianina RavenscroftMacarena Cabrera-SerranoHong JiaoCarlo Augusto BortolottiMarcello PignataroMatteo LambrughiHaibo JiangAlistair R. R. ForrestNúria Benseny-CasesStefan HofbauerChristian ObingerGianantonio BattistuzziMarzia BelleiMarco BorsariGiulia Di RoccoHelena M. ViolaLivia C. HoolJosep CladeraKristina Lagerstedt-RobinsonFengqing XiangAnna WredenbergFrancesc MirallesJuan José BaigesEdoardo MalfattiNorma B. RomeroNathalie StreichenbergerChristophe VialKristl G. ClaeysChiara S. M. StraathofAn GorisChristoph FreyerMartin LammensGuillaume BassezJuha KerePaula ClementeThomas SejersenBjarne UddNoemí VidalIsidre FerrerLars EdströmAnna WedellNigel G. LaingNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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
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.
format	article
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
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 Portfolio
publishDate	2019
url	https://doaj.org/article/66b676bb69fb44be94c22654e712d730
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

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