Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy
COX18基因的双等位基因变异会导致线粒体疾病,主要表现为周围神经病变。
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doi:10.1101/2024.07.03.24309787
Armirola-Ricaurte, Camila; Morant, Laura; Adant, Isabelle; Hamed, Sherifa Ahmed; Pipis, Menelaos; Efthymiou, Stephanie; Amor-Barris, Silvia; Atkinson, Derek; Van de Vondel, Liedewei; Tomic, Aleksandra; de Vriendt, Els; Zuchner, Stephan; Ghesquiere, Bart; Hanna, Michael; Houlden, Henry; Lunn, Michael P; Reilly, Mary M; Rasic, Vedrana Milic; Jordanova, Albena