Two novel missense variants in SPTBN2 likely associated with spinocerebellar ataxia type 5

INTRODUCTION: Spinocerebellar ataxias (SCAs) are a heterozygous group of neurodegenerative disorders. Spinocerebellar ataxia type 5 (SCA5) is a rare autosomal-dominant ataxia with pure cerebellum involvement. The clinical characteristics are limb and gait ataxia, trunk ataxia, sensory deficits, abno...

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Detalles Bibliográficos
Autores principales: Bian, Xianli, Wang, Shang, Jin, Suqin, Xu, Shunliang, Zhang, Hong, Wang, Dewei, Shang, Wei, Wang, Ping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642373/
https://www.ncbi.nlm.nih.gov/pubmed/33797620
http://dx.doi.org/10.1007/s10072-021-05204-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8642373/
https://www.ncbi.nlm.nih.gov/pubmed/33797620
http://dx.doi.org/10.1007/s10072-021-05204-3

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