Spinocerebellar ataxia type 21 exists in the Chinese Han population

Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. T...

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Detalles Bibliográficos
Autores principales: Zeng, Sheng, Zeng, Junsheng, He, Miao, Zeng, Xianfeng, Zhou, Yao, Liu, Zhen, Xia, Kun, Pan, Qian, Jiang, Hong, Shen, Lu, Yan, Xinxiang, Tang, Beisha, Wang, Junling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728603/
https://www.ncbi.nlm.nih.gov/pubmed/26813285
http://dx.doi.org/10.1038/srep19897

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