A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.
Okawa
S
S
Sugawara
M
M
Watanabe
S
S
Imota
T
T
Toyoshima
I
I
D000328:Adult; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000175:diagnosis / Q000235:genetics*; D002531:Cerebellum / Q000473:pathology; D002869:Chromosome Aberrations; D018389:Codon, Nonsense; D005260:Female; D005808:Genes, Recessive; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*
D018389:Codon, Nonsense; D006360:Heat-Shock Proteins; C404403:SACS protein, human