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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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Detalles Bibliográficos
Autores principales:	Dougherty, Sean C., Harper, Amy, Al Saif, Hind, Vorona, Gregory, Haines, Scott R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2018
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6249318/ https://www.ncbi.nlm.nih.gov/pubmed/30498468 http://dx.doi.org/10.3389/fneur.2018.00956

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