Article

Novel <i>FARS2</i> variants in patients with early onset encephalopathy with or without epilepsy associated with long survival

2020-01-03

Abstract excerpt

Mitochondrial translation is essential for the biogenesis of the mitochondrial oxidative phosphorylation system (OXPHOS) that synthesizes the bulk of ATP for the cell. Hypomorphic and loss-of-function variants in either mitochondrial DNA or in nuclear genes that encode mitochondrial translation factors can result in impaired OXPHOS biogenesis and mitochondrial diseases with variable clinical presentations. Compoun...

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Literature Corpus work: b2500f76-79d8-5fb8-93c9-e1b1878ca041
DOI: 10.1101/2019.12.30.19016139

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