Article

Phenotypic Assessment of Cox10 Variants and their Implications for Leigh Syndrome

2024-07-19

Abstract excerpt

<title>Abstract</title> <p>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 measur...

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Literature Corpus work: 717f0679-0edf-57dd-ba5e-6a95fe2f05e8
DOI: 10.21203/rs.3.rs-4631252/v1

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