학술논문
Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions
Document Type
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
Source
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
Subject
Language
English
ISSN
2041-1723
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.