A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
Suzuki
Chieko
C
Watanabe
Mitsunori
M
Tomiyama
Masahiko
M
Sugimoto
Kazuhiro
K
Nanba
Eiji
E
Jackson
Mandy
M
Kimura
Tamaki
T
Seino
Yusuke
Y
Wakasaya
Yasuhito
Y
Kawarabayashi
Takeshi
T
Miki
Yasuo
Y
Yamamoto-Watanabe
Yukiko
Y
Shoji
Mikio
M
D000328:Adult; D017668:Age of Onset; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D003951:Diagnostic Errors; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D008297:Male; D001523:Mental Disorders / Q000235:genetics*; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D012559:Schizophrenia / Q000503:physiopathology
D002553:Cerebroside-Sulfatase