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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer International Publishing
2021
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| Materias: | |
| 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 |