Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy
突触结合蛋白2基因突变导致常染色体显性遗传的Lambert-Eaton肌无力综合征和非进行性运动神经病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.07.011
Stittrich, Anna-Barbara; Lehman, Anna; Bodian, Dale L; Ashworth, Justin; Zong, Zheyuan; Li, Hong; Lam, Patricia; Khromykh, Alina; Iyer, Ramaswamy K; Vockley, Joseph G; Baveja, Rajiv; Silva, Ermelinda Santos; Dixon, Joanne; Leon, Eyby L; Solomon, Benjamin D; Glusman, Gustavo; Niederhuber, John E; Roach, Jared C; Patel, Millan S; Garber, Kathryn B; Ratzel, Sarah; Cullinan, Sara B; Herrmann, David N; Horvath, Rita; Sowden, Janet E; Gonzalez, Michael; Sanchez-Mejias, Avencia; Guan, Zhuo; Whittaker, Roger G; Almodovar, Jorge L; Lane, Maria; Bansagi, Boglarka; Pyle, Angela; Boczonadi, Veronika; Lochmüller, Hanns; Griffin, Helen; Chinnery, Patrick F; Lloyd, Thomas E; Littleton, J Troy; Zuchner, Stephan
