A SPG3A mutation with a novel foot phenotype of hereditary spastic paraplegia in a Chinese Han family.
Li
Xun-hua
XH
Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510089, China.
Song
Chun
C
Chen
Su-qin
SQ
Zhou
Yan
Y
Guo
Hui
H
Zhou
Chun-long
CL
Yang
Zhi-yun
ZY
Liang
Yin-xing
YX
Wang
Yi-ming
YM
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D005073:Evoked Potentials, Somatosensory; D019143:Evolution, Molecular; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D020558:GTP Phosphohydrolases / Q000235:genetics*; D019204:GTP-Binding Proteins; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
D008565:Membrane Proteins; C440006:ATL1 protein, human; D020558:GTP Phosphohydrolases; D019204:GTP-Binding Proteins