A Chromosomal Deletion and New Frameshift Mutation Cause ARSACS in an African-American
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) is a rare, progressive, neurodegenerative disease characterized by ataxia, spasticity and polyneuropathy. First described in the French-Canadian population of Quebec in 1978, ARSACS has since been identified in multiple patients worl...
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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Frontiers Media S.A.
2018-11-01
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| Colección: | Frontiers in Neurology |
| Materias: | |
| Acceso en línea: | https://www.frontiersin.org/article/10.3389/fneur.2018.00956/full |
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