Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China
基本信息来源于合作网站,原文需代理用户跳转至来源网站获取
摘要:
Dear Editor,
Spinocerebellar ataxias (SCAs) are a group of genetic disorders characterized by slowly progressive incoordination of gait and are often associated with poor coordination of the hands,speech,and eye movements.Frequently,atrophy of the cerebellum occurs.The genetic forms of ataxia are diagnosed by family history,physical examination,neuroimaging,and molecular genetic testing.