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This is a Observational study (also classified as: Animal Study, In Vitro Study).

August 20, 2025BrainOpen Access

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

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Patients with biallelic variants in cox18 displayed progressive axonal peripheral neuropathy along with possible central nervous system symptoms.
Functional studies showed the c.435-6A>G variant leads to a defective cofactor of mitochondrial complex iv, impairing its assembly and activity.
Assessment involved detailed exome sequencing and neurological evaluations in four individuals from three families.
Findings highlight the role of cox18 in mitochondrial disorders and the need for genetic testing in charcot-marie-tooth disease patients.

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Genetic analysis reveals COX18 variants causing axonal peripheral neuropathy in affected families, indicating mitochondrial dysfunction.

Armirola-Ricaurte et al. (2025) studied this question.

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