A Novel Missense Mutation in the Spectrin Beta Nonerythrocytic 2 Gene Likely Associated with Spinoce

• 作 者: Li-Zhi Liu Ming Ren Mao Li Yu-
• 机 构: Department of Neurology,Chinese People’s Liberation Army General Hospital,Beijing 100853,China“,”Dep
• 出 处: 中华医学杂志（英文版）
• 发表日期: 2016年20期

To the Editor:Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal dominant spinocerebellar ataxia.Mutations in the spectrin beta nonerythrocytic 2 gene (SPTBN2) are known to cause SCA5,six of which have been reported,including three missense mutations and three deletion mutations.[1]