August 20, 2025BrainOpen Access

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

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Exome sequencing reveals COX18 variants cause axonal CMT in families, indicating a key role in mitochondrial dynamics.

Biallelic variants in cox18 lead to significant mitochondrial dysfunction, causing peripheral neuropathy.
Two siblings exhibited early-onset axonal CMT due to the c.435-6A>G splice variant in cox18.
Exome sequencing assessed individuals from three families, confirming genetic causes of CMT.
Fish model studies show cox18 downregulation results in neurodegeneration, underscoring CMT's impact.

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

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August 20, 2025BrainOpen Access

View Full Paper

Ask AI

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Authors

Exome sequencing reveals COX18 variants cause axonal CMT in families, indicating a key role in mitochondrial dynamics.

Biallelic variants in cox18 lead to significant mitochondrial dysfunction, causing peripheral neuropathy.
Two siblings exhibited early-onset axonal CMT due to the c.435-6A>G splice variant in cox18.
Exome sequencing assessed individuals from three families, confirming genetic causes of CMT.
Fish model studies show cox18 downregulation results in neurodegeneration, underscoring CMT's impact.

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

View Full Paper

Ask AI

Bookmark