期刊
NEUROLOGY
卷 64, 期 12, 页码 2129-2131出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/01.WNL.0000166031.91514.B3
关键词
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The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.
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