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Article

The genotypic and phenotypic spectrum of MTO1 deficiency

16 Nov 2017

Abstract excerpt

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...

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PMID: 29331171
DOI: 10.1016/j.ymgme.2017.11.003

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