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A Novel Homozygous Variant of SETX Causes Ataxia with Oculomotor Apraxia Type 2
BACKGROUND AND PURPOSE: Autosomal recessive cerebellar ataxias constitute a highly heterogeneous group of neurodegenerative disorders. This study was carried out to determine the clinical and genetic causes of ataxia in two families from Pakistan. METHODS: Detailed clinical investigations were carri...
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| 出版年: | J Clin Neurol |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Korean Neurological Association
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6172491/ https://ncbi.nlm.nih.gov/pubmed/30198223 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2018.14.4.498 |
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