成人脑型肾上腺脑白质营养不良的临床及遗传学特征

刘桃桃, 刘晓黎, 邬静莹, 倪瑞隆, 张梦圆, 季杜欣, 张梅, 曹立

Clinical and genetic characteristics of adult cerebral adrenoleukodystrophy

LIU Taotao, LIU Xiaoli, WU Jingying, NI Ruilong, ZHANG Mengyuan, JI Duxin, ZHANG Mei, CAO Li

图2 ACALD患者 ABCD1 基因突变示意图 Note： Red indicates new mutations reported in this study. Black indicates previously reported mutations.

Fig 2 Schematic diagram of ABCD1 gene mutation in ACALD patients