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Article

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.

Clinical genetics - 1 Jan 2017

Martín M Á, García-Silva M T, Barcia G, Delmiro A, Rodríguez-García M E, Blázquez A, Francisco-Álvarez R, Martín-Hernández E, Quijada-Fraile P, Tejada-Palacios P, Arenas J, Santos C, Martínez-Azorín F

Abstract excerpt

We report clinical and biochemical finding from three unrelated patients presenting ONCE (Optic Neuropathy, Cardiomyopathy and Encephalopathy with lactic acidosis and combined oxidative phosphorylation deficiency) syndrome. Whole-exome sequencing (WES) of the three patients and the healthy sister of one of them was used to identify the carry gene. Clinical and biochemical findings were used to filter variants,...

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Source

Identifiers

PMID: 27256614
DOI: 10.1111/cge.12815

Genes

MTO1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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