Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is cla...

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Detalles Bibliográficos
Autores principales: Habibzadeh, Parham, Tabatabaei, Zahra, Inaloo, Soroor, Nashatizadeh, Muhammad Mahdi, Synofzik, Matthis, Ostovan, Vahid Reza, Faghihi, Mohammad Ali
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784631/
https://www.ncbi.nlm.nih.gov/pubmed/33414805
http://dx.doi.org/10.3389/fgene.2020.585136

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7784631/
https://www.ncbi.nlm.nih.gov/pubmed/33414805
http://dx.doi.org/10.3389/fgene.2020.585136

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