RT Journal Article
T1 Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
A1 Olivé, Montse
A1 Engvall, Martin
A1 Ravenscroft, Gianina
A1 Cabrera-Serrano, Macarena
A1 Jiao, Hong
A1 Bortolotti, Carlo Augusto
A1 Pignataro, Marcello
A1 Lambrughi, Matteo
A1 Jiang, Haibo
A1 Forrest, Alistair R R
A1 Benseny-Cases, Núria
A1 Hofbauer, Stefan
A1 Obinger, Christian
A1 Battistuzzi, Gianantonio
A1 Bellei, Marzia
A1 Borsari, Marco
A1 Di Rocco, Giulia
A1 Viola, Helena M
A1 Hool, Livia C
A1 Cladera, Josep
A1 Lagerstedt-Robinson, Kristina
A1 Xiang, Fengqing
A1 Wredenberg, Anna
A1 Miralles, Francesc
A1 Baiges, Juan José
A1 Malfatti, Edoardo
A1 Romero, Norma B
A1 Streichenberger, Nathalie
A1 Vial, Christophe
A1 Claeys, Kristl G
A1 Straathof, Chiara S M
A1 Goris, An
A1 Freyer, Christoph
A1 Lammens, Martin
A1 Bassez, Guillaume
A1 Kere, Juha
A1 Clemente, Paula
A1 Sejersen, Thomas
A1 Udd, Bjarne
A1 Vidal, Noemí
A1 Ferrer, Isidre
A1 Edström, Lars
A1 Wedell, Anna
A1 Laing, Nigel G
AB Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O2, facilitates its intracellular transport and serves as a controller of nitric oxide and reactive oxygen species. Here, we identify a recurrent c.292C>T (p.His98Tyr) substitution in MB in fourteen members of six European families suffering from an autosomal dominant progressive myopathy with highly characteristic sarcoplasmic inclusions in skeletal and cardiac muscle. Myoglobinopathy manifests in adulthood with proximal and axial weakness that progresses to involve distal muscles and causes respiratory and cardiac failure. Biochemical characterization reveals that the mutant myoglobin has altered O2 binding, exhibits a faster heme dissociation rate and has a lower reduction potential compared to wild-type myoglobin. Preliminary studies show that mutant myoglobin may result in elevated superoxide levels at the cellular level. These data define a recognizable muscle disease associated with MB mutation.
YR 2019
FD 2019-03-27
LK http://hdl.handle.net/10668/13762
UL http://hdl.handle.net/10668/13762
LA en
DS RISalud
RD Apr 6, 2025