The genotypic and phenotypic spectrum of MTO1 deficiency
Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein ex...
Gespeichert in:
| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2018
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| In: |
Molecular genetics and metabolism
Year: 2017, Jahrgang: 123, Heft: 1, Pages: 28-42 |
| ISSN: | 1096-7206 |
| DOI: | 10.1016/j.ymgme.2017.11.003 |
| Online-Zugang: | Resolving-System, Volltext: http://dx.doi.org/10.1016/j.ymgme.2017.11.003 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S109671921730478X 
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| Verfasserangaben: | James J. O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K. Ozgul, Peter Freisinger, Ian Garber, Tobias B. Haack, Rita Horvath, Ivo Barić, Ralf A. Husain, Leo A.J. Kluijtmans, Urania Kotzaeridou, Andrew A. Morris, Colin J. Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B. Wortmann, Johannes A. Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W. Wasserman, Ron A. Wevers, Udo F. Engelke, Richard J. Rodenburg, Teck Wah Ting, Robert McFarland, Robert W. Taylor, Ramona Salvarinova, Clara D.M. van Karnebeek |
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| 520 | |a Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10). | ||
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| 650 | 4 | |a Lactic acidosis | |
| 650 | 4 | |a Mitochondrial disease | |
| 650 | 4 | |a Mitochondrial translation optimization 1 | |
| 650 | 4 | |a Oxidative Phosphorylation Defect | |
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