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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...
Autores principales: | Bouzid, Fatima Zahra, Mansouri, Maria, Abdelaziz, Chaikhy, Louhab, Nisrine, Bernard, Sablonniere, Strubi-Vuillaume, Isabelle, Dafir, Kenza, Aboussair, Nisrine |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The African Field Epidemiology Network
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077635/ https://www.ncbi.nlm.nih.gov/pubmed/33995769 http://dx.doi.org/10.11604/pamj.2021.38.162.27262 |
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