Associated Papers
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Armirola-Ricaurte C et al.
Brain : a Journal of Neurology, 2026
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Mavillard F et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
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