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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03769naa a2200781 4500 | |
| 001 | oai:prod.swepub.kib.ki.se:140567635 | |
| 003 | SwePub | |
| 008 | 240924s2019 | |||||||||||000 ||eng| | |
| 024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1405676352 URI |
| 024 | 7 | a https://doi.org/10.1038/s41467-019-09111-22 DOI |
| 040 | a (SwePub)ki | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Olive, M4 aut |
| 245 | 1 0 | a Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions |
| 264 | c 2019-03-27 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2019 |
| 520 | a 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. | |
| 700 | 1 | a Engvall, Mu Karolinska Institutet4 aut |
| 700 | 1 | a Ravenscroft, G4 aut |
| 700 | 1 | a Cabrera-Serrano, M4 aut |
| 700 | 1 | a Jiao, Hu Karolinska Institutet4 aut |
| 700 | 1 | a Bortolotti, CA4 aut |
| 700 | 1 | a Pignataro, M4 aut |
| 700 | 1 | a Lambrughi, M4 aut |
| 700 | 1 | a Jiang, HB4 aut |
| 700 | 1 | a Forrest, ARR4 aut |
| 700 | 1 | a Benseny-Cases, N4 aut |
| 700 | 1 | a Hofbauer, S4 aut |
| 700 | 1 | a Obinger, C4 aut |
| 700 | 1 | a Battistuzzi, G4 aut |
| 700 | 1 | a Bellei, M4 aut |
| 700 | 1 | a Borsari, M4 aut |
| 700 | 1 | a Di Rocco, G4 aut |
| 700 | 1 | a Viola, HM4 aut |
| 700 | 1 | a Hoo, LC4 aut |
| 700 | 1 | a Cladera, J4 aut |
| 700 | 1 | a Lagerstedt-Robinson, Ku Karolinska Institutet4 aut |
| 700 | 1 | a Xiang, FQ4 aut |
| 700 | 1 | a Wredenberg, Au Karolinska Institutet4 aut |
| 700 | 1 | a Miralles, F4 aut |
| 700 | 1 | a Baiges, JJ4 aut |
| 700 | 1 | a Malfatti, E4 aut |
| 700 | 1 | a Romero, NB4 aut |
| 700 | 1 | a Streichenberger, N4 aut |
| 700 | 1 | a Via, C4 aut |
| 700 | 1 | a Claeys, KG4 aut |
| 700 | 1 | a Straathof, CSM4 aut |
| 700 | 1 | a Goris, A4 aut |
| 700 | 1 | a Freyer, Cu Karolinska Institutet4 aut |
| 700 | 1 | a Lammens, M4 aut |
| 700 | 1 | a Bassez, G4 aut |
| 700 | 1 | a Kere, Ju Karolinska Institutet4 aut |
| 700 | 1 | a Clemente, Pu Karolinska Institutet4 aut |
| 700 | 1 | a Sejersen, Tu Karolinska Institutet4 aut |
| 700 | 1 | a Udd, B4 aut |
| 700 | 1 | a Vidal, N4 aut |
| 700 | 1 | a Ferrer, I4 aut |
| 700 | 1 | a Edstrom, L4 aut |
| 700 | 1 | a Wedell, Au Karolinska Institutet4 aut |
| 700 | 1 | a Laing, NG4 aut |
| 710 | 2 | a Karolinska Institutet4 org |
| 773 | 0 | t Nature communicationsd : Springer Science and Business Media LLCg 10:1, s. 1396-q 10:1<1396-x 2041-1723 |
| 856 | 4 | u https://doi.org/10.1038/s41467-019-09111-2 |
| 856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:140567635 |
| 856 | 4 8 | u https://doi.org/10.1038/s41467-019-09111-2 |
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- Olive, M
- Engvall, M
- Ravenscroft, G
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- Jiao, H
- Bortolotti, CA
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- Pignataro, M
- Lambrughi, M
- Jiang, HB
- Forrest, ARR
- Benseny-Cases, N
- Hofbauer, S
- Obinger, C
- Battistuzzi, G
- Bellei, M
- Borsari, M
- Di Rocco, G
- Viola, HM
- Hoo, LC
- Cladera, J
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- Xiang, FQ
- Wredenberg, A
- Miralles, F
- Baiges, JJ
- Malfatti, E
- Romero, NB
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- Via, C
- Claeys, KG
- Straathof, CSM
- Goris, A
- Freyer, C
- Lammens, M
- Bassez, G
- Kere, J
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- Sejersen, T
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- Ferrer, I
- Edstrom, L
- Wedell, A
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