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Article

Phenotypic assessment of Cox10 variants and their implications for Leigh Syndrome.

BMC research notes - 16 Aug 2024

Voges Thomas-Shadi, Lim Eun Bi, MacKenzie Abigail, Mudler Kyle, DeSouza Rebecca, Onyejekwe Nmesoma E, Johnston Stephen D

Abstract excerpt

OBJECTIVES: Cox10 is an enzyme required for the activity of cytochrome c oxidase. Humans who lack at least one functional copy of Cox10 have a form of Leigh Syndrome, a genetic disease that is usually fatal in infancy. As more human genomes are sequenced, new alleles are being discovered; whether or not these alleles encode functional proteins remains unclear. Thus, we set out to measure the phenotypes of many...

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Identifiers

PMID: 39152498
DOI: 10.1186/s13104-024-06879-5
PMCID: PMC11328382

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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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