Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy - Jacquier, Arnaud; Theuriet, Julian; Fontaine, Fanny; Mosbach, Valentine; Lacoste, Nicolas; Ribault, Shams; Risson, Valérie; Carras, Julien; Coudert, Laurent; Simonet, Thomas; Latour, Philippe; Stojkovic, Tanya; et al. (Brain (London, England : 1878), 2023)
Keywords: Ataxia - genetics; Child, Preschool; Genetics; Human genetics; Human health and pathology; Humans; Life Sciences; Male; Mitochondrial Diseases - drug therapy; Mitochondrial Diseases - genetics; Mutation - genetics; Neurobiology; Neurons and Cognition; Original; Ubiquinone - therapeutic use; distal hereditary motor neuropathy; Coenzyme Q10; COQ7; COQ7 distal hereditary motor neuropathy Coenzyme Q10