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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...
Autores principales: | Qian, Nannan, Wei, Taohua, Yang, Wenming, Wang, Jiuxiang, Zhang, Shijie, Jin, Shan, Dong, Wei, Hao, Wenjie, Yang, Yue, Huang, Ru |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
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 |
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