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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...
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| 出版年: | Pan Afr Med J |
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| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
The African Field Epidemiology Network
2021
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| 主題: | |
| オンライン・アクセス: | 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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