Published January 1, 2018
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The genotypic and phenotypic spectrum of MTO1 deficiency
Creators
- O'Byrne, James J.1
- Tarailo-Graovac, Maja
- Ghani, Aisha1
- Champion, Michael2
- Deshpande, Charu3
- Dursun, Ali4
- Ozgul, Riza K.4
- Freisinger, Peter5
- Garber, Ian6
- Haack, Tobias B.
- Horvath, Rita7
- Baric, Ivo
- Husain, Ralf A.8
- Kluijtmans, Leo A. J.9
- Kotzaeridou, Urania10
- Morris, Andrew A.11
- Ross, Colin J.12
- Santra, Saikat13
- Smeitink, Jan14
- Tarnopolsky, Mark15
- Tarnopolsky, Mark15
- 1. Univ British Columbia, BC Childrens Hosp, BC Childrens Hosp Res Inst, Div Biochem Dis, Vancouver, BC, Canada
- 2. Evelina London Childrens Hosp, Dept Inherited Metab Dis, Guys & St Thomas NHS Fdn Trusts, London, England
- 3. Guys & St Thomas NHS Fdn Trust, Clin Genet Unit, London, England
- 4. Hacettepe Univ, Inst Child Hlth, Dept Pediat Metab, Fac Med, Ankara, Turkey
- 5. Klinikum Reutlingen, Dept Pediat, Reutlingen, Germany
- 6. Univ British Columbia, BC Childrens Hosp Res Inst, Vancouver, BC, Canada
- 7. Newcastle Univ, Inst Med Genet, John Walton Muscular Dystrophy Res Ctr, Wellcome Trust Ctr Mitochondria Res, Newcastle Upon Tyne, Tyne & Wear, England
- 8. Jena Univ Hosp, Dept Neuropediat, Ctr Inborn Metab Disorders, Jena, Germany
- 9. Radboud Univ Nijmegen, Med Ctr, Translat Metab Lab, Dept Lab Med, Nijmegen, Netherlands
- 10. Univ Hosp Heidelberg, Div Neuropediat & Metab Med, Dept Gen Pediat, Heidelberg, Germany
- 11. Manchester Univ Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Manchester Ctr Genom Med, Willink Biochem Genet Unit, Manchester, Lancs, England
- 12. Univ British Columbia, Fac Pharmaceut Sci, Vancouver, BC, Canada
- 13. Birmingham Childrens Hosp, Dept Clin Inherited Metab Disorders, Steelhouse Lane, Birmingham, W Midlands, England
- 14. Radboud Univ Nijmegen, Med Ctr, Radboud Ctr Mitochondrial Med, Nijmegen, Netherlands
- 15. McMaster Univ, Med Ctr, Div Neuromuscular & Neurometab Dis, Dept Pediat, Hamilton, ON, Canada
Description
Background: 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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