Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant
揭示慢性进行性外眼肌麻痹患者两种基因改变的功能变化:新型线粒体DNA m.7486G>A变异的报告
期刊:Neuromuscular Disorders
影响因子:2.8
doi:10.1016/j.nmd.2017.11.006
Bacalhau, Mafalda; Simões, Marta; Rocha, Mariana C; Hardy, Steven A; Vincent, Amy E; Durães, João; Macário, Maria C; Santos, Maria João; Rebelo, Olinda; Lopes, Carla; Pratas, João; Mendes, Cândida; Zuzarte, Mónica; Rego, A Cristina; Girão, Henrique; Wong, Lee-Jun C; Taylor, Robert W; Grazina, Manuela