摘要
The authors describe two Japanese siblings with autosomal recessive spastic a taxia of Charlevoix-Saguenay (ARSACS)-without spasticity, usually a core fea ture of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at a mino acid residue 304.
The authors describe two Japanese siblings with autosomal recessive spastic a taxia of Charlevoix-Saguenay (ARSACS)-without spasticity, usually a core fea ture of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at a mino acid residue 304.
出处
《世界核心医学期刊文摘（神经病学分册）》
2005年第10期56-56,共1页
Digest of the World Core Medical Journals:Clinical Neurology
