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- W2067515903 abstract "The authors describe two patients in a Japanese family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. They presented early onset spastic ataxia, sensorimotor neuropathy, nystagmus, slurred speech, and hypermyelinated retinal nerve fibers. The authors identified a homozygous missense mutation (T7492C) in the SACS gene, which resulted in the substitution of arginine for tryptophan at amino acid residue 2498 (W2498R)." @default.
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- W2067515903 date "2004-01-12" @default.
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- W2067515903 title "Identification of a SACS gene missense mutation in ARSACS" @default.
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- W2067515903 doi "https://doi.org/10.1212/01.wnl.0000099371.14478.73" @default.
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