Genetic & Genomic MedicinemedRxivPreprint
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant…·Albena Jordanova
This study identifies biallelic COX18 variants as a cause of autosomal recessive axonal CMT with peripheral neuropathy and potential central nervous system involvement.
3 citations