Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
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ABSTRACT:
SUBMITTER: Olive M
PROVIDER: S-EPMC6437160 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
Olivé Montse M Engvall Martin M Ravenscroft Gianina G Cabrera-Serrano Macarena M Jiao Hong H Bortolotti Carlo Augusto CA Pignataro Marcello M Lambrughi Matteo M Jiang Haibo H Forrest Alistair R R ARR Benseny-Cases Núria N Hofbauer Stefan S Obinger Christian C Battistuzzi Gianantonio G Bellei Marzia M Borsari Marco M Di Rocco Giulia G Viola Helena M HM Hool Livia C LC Cladera Josep J Lagerstedt-Robinson Kristina K Xiang Fengqing F Wredenberg Anna A Miralles Francesc F Baiges Juan José JJ Malfatti Edoardo E Romero Norma B NB Streichenberger Nathalie N Vial Christophe C Claeys Kristl G KG Straathof Chiara S M CSM Goris An A Freyer Christoph C Lammens Martin M Bassez Guillaume G Kere Juha J Clemente Paula P Sejersen Thomas T Udd Bjarne B Vidal Noemí N Ferrer Isidre I Edström Lars L Wedell Anna A Laing Nigel G NG
Nature communications 20190327 1
Myoglobin, encoded by MB, is a small cytoplasmic globular hemoprotein highly expressed in cardiac myocytes and oxidative skeletal myofibers. Myoglobin binds O<sub>2,</sub> 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 in ...[more]
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