Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype
由NEFH基因变异引起的2CC型夏科-马里-图斯病会导致进行性、非长度依赖性、以运动障碍为主的表型。
期刊:Journal of Neurology Neurosurgery and Psychiatry
影响因子:7.5
doi:10.1136/jnnp-2021-327186
Pipis, Menelaos; Cortese, Andrea; Polke, James M; Poh, Roy; Vandrovcova, Jana; Laura, Matilde; Skorupinska, Mariola; Jacquier, Arnaud; Juntas-Morales, Raul; Latour, Philippe; Petiot, Philippe; Sole, Guilhem; Fromes, Yves; Shah, Sachit; Blake, Julian; Choi, Byung-Ok; Chung, Ki Wha; Stojkovic, Tanya; Rossor, Alexander M; Reilly, Mary M