Biallelic variants in COQ7 cause distal hereditary motor neuropathy with upper motor neuron signs
COQ7 的双等位基因变异导致远端遗传性运动神经病,并伴有上运动神经元体征
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awad158
Adriana P Rebelo, Pedro J Tomaselli, Jessica Medina, Ying Wang, Maike F Dohrn, Eva Nyvltova, Matt C Danzi, Mark Garrett, Sean E Smith, Alan Pestronk, Chengcheng Li, Ariel Ruiz, Elizabeth Jacobs, Shawna M E Feely, Marcondes C França, Marcus V Gomes, Diogo F Santos, Surinder Kumar, David B Lombard, Ma