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...

Descripción completa

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

Internet

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

Ejemplares similares