Article
Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.
The International journal of neuroscience - 1 Jul 2013
Peng Lan, Wang Chunrong, Chen Zhao, Wang Jun-Ling, Tang Bei-Sha, Jiang Hong
Abstract excerpt
The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene. Among 522 Chinese Han SCA patients (including familial and sporadic) we have collected since 1995, approximately 40% of them have not yet been assigned genotype. To investigate the mutation frequency of...
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