A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Xianling
X
Wang
Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Yanhui
Y
Yang
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Xiangbo
X
Wang
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China. Email: lcj818@sina.com.
Cunjiang
C
Li
Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 100053, China.
Jianping
J
Jia
D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation; D010264:Paraplegia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D055815:Young Adult
D011506:Proteins; C517003:WASHC5 protein, human