Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report)

Spinocerebellar ataxia type 7 (SCA7) is a rare autosomal dominant neurodegenerative disease. Its clinical presentation is a progressive cerebellar ataxia associated with cone and retinal dystrophy. The CAG repeat expansion in the ataxin-7 gene (ATXN7) causes spinocerebellar ataxia type 7 - a mutatio...

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Detalhes bibliográficos
Publicado no:Pan Afr Med J
Main Authors: Bouzid, Fatima Zahra, Mansouri, Maria, Abdelaziz, Chaikhy, Louhab, Nisrine, Bernard, Sablonniere, Strubi-Vuillaume, Isabelle, Dafir, Kenza, Aboussair, Nisrine
Formato: Artigo
Idioma:Inglês
Publicado em: The African Field Epidemiology Network 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077635/
https://ncbi.nlm.nih.gov/pubmed/33995769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.11604/pamj.2021.38.162.27262
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