Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
COX18 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。
期刊:Brain
影响因子:11.7
doi:10.1093/brain/awaf300
Armirola-Ricaurte Camila, Morant Laura, Adant Isabelle, Hamed Sherifa A, Pipis Menelaos, Efthymiou Stephanie, Amor-Barris Silvia, Atkinson Derek, Van de Vondel Liedewei, Tomic Aleksandra, Seneca Sara, de Vriendt Els, Zuchner Stephan, Ghesquiere Bart, Hanna Michael G, Houlden Henry, Lunn Michael P, Reilly Mary M, Milic Rasic Vedrana, Jordanova Albena
