Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family

Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation. Nesprin-1, encoded by SYNE1, is widely expressed in various tissues, especially in...

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Detalles Bibliográficos
Autores principales: Qian, Nannan, Wei, Taohua, Yang, Wenming, Wang, Jiuxiang, Zhang, Shijie, Jin, Shan, Dong, Wei, Hao, Wenjie, Yang, Yue, Huang, Ru
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905644/
https://www.ncbi.nlm.nih.gov/pubmed/35281832
http://dx.doi.org/10.3389/fgene.2022.795188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8905644/
https://www.ncbi.nlm.nih.gov/pubmed/35281832
http://dx.doi.org/10.3389/fgene.2022.795188

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