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Article

A novel compound heterozygous mutation of the MTO1 gene associated with complex oxidative phosphorylation deficiency type 10.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2021

Luo Qing, Wen Xia, Zhou Jiahong, Chen Yang, Lv Zhiyu, Shen Xing, Liu Jinbo

Abstract excerpt

BACKGROUND: The mitochondrial tRNA translation optimization 1 (MTO1) gene, which is closely related to defective mitochondrial oxidative phosphorylation, is an evolutionarily conserved protein expressed in high energy-demanding tissues and is associated with complex oxidative phosphorylation deficiency type 10 (COXPD10) in humans. Related cases and studies are still scarce and have not been reported in the...

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PMID: 34547275
DOI: 10.1016/j.cca.2021.09.014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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