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Clinical and genetic analysis of combined oxidative phosphorylation defificiency-10 caused by MTO1 mutation.

Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2022

Zhou Chaofan, Wang Jin, Zhang Qinle, Yang Qi, Yi Shang, Shen Yiping, Luo Jingsi, Qin Zailong

Abstract excerpt

The mitochondrial translation optimization factor 1(MTO1) gene mutations had been reported to be linked to combined oxidative phosphorylation defificiency-10 (COXPD10). In this study, we presented the detailed clinical features and genetic analysis of the patient with two variants in MTO1, and reviewed 42 different cases available in publications. Whole exome sequencing and bioinformatics analysis were employed...

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PMID: 34990597
DOI: 10.1016/j.cca.2021.12.025

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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