Two novel mutations in the SPG11 gene causing hereditary spastic paraplegia associated with thin corpus callosum.
Zhang
Shu-Shan
SS
Chen
Qin
Q
Chen
Xue-Ping
XP
Wang
Jian-Gang
JG
Burgunder
Jean-Marc
JM
Shang
Hui-Fang
HF
Burgunder
Jean-Marc
JM
Yang
Yuan
Y
D000328:Adult; D003241:Consanguinity; D003337:Corpus Callosum / Q000473:pathology*; D005260:Female; D020233:Gait Disorders, Neurologic / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology*
D011506:Proteins; C520412:SPG11 protein, human