Chorea-acanthocytosis with upper motor neuron degeneration and 3419_3420 delCA and 3970_3973 delAGTC VPS13A mutations.
Miki
Yasuo
Y
Nishie
Makoto
M
Ichiba
Mio
M
Nakamura
Masayuki
M
Mori
Fumiaki
F
Ogawa
Masaya
M
Kaimori
Mitsuomi
M
Sano
Akira
A
Wakabayashi
Koichi
K
D000328:Adult; D017668:Age of Onset; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009046:Motor Neurons / Q000473:pathology*; D009154:Mutation; D009410:Nerve Degeneration / Q000473:pathology*; D054546:Neuroacanthocytosis / Q000235:genetics* / Q000473:pathology*; D033921:Vesicular Transport Proteins / Q000235:genetics*
C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins