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A Novel SACS Variant Identified in a Chinese Patient: Case Report and Review of the Literature

Mutations in the SACS gene have been linked to autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS). It is a clinically and genetically heterogeneous disease characterized by slow progressive ataxia, spasticity, sensorimotor neuropathy, and a combination of other manifestations, such a...

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Detalles Bibliográficos
Autores principales:	Chen, Yuchao, Lu, Xiaodong, Jin, Yi, Li, Dan, Ye, Xiaojun, Tao, Chenjuan, Zhou, Menglu, Jiang, Haibo, Yu, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978317/ https://www.ncbi.nlm.nih.gov/pubmed/35386405 http://dx.doi.org/10.3389/fneur.2022.845318

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