Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
Camila Armirola-Ricaurte, Laura Morant, Isabelle Adant, Sherifa Ahmed Hamed, Menelaos Pipis, Stéphanie Efthymiou, Silvia Amor‐Barris, Derek Atkinson, Liedewei Van de Vondel, Aleksandra Tomić, Els De Vriendt, Stephan L. Zuchner, Bart Ghesquière, Michael G. Hanna, Henry Houlden, , 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.
medRxiv · Jul 3, 2024 · PreprintGenetic & Genomic Medicine