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Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation: A case report
BACKGROUND: Autosomal recessive spinocerebellar ataxia type 4 (SCAR4) is a type of SCA that is a group of hereditary diseases characterized by gait ataxia. The main clinical features of SCAR4 are progressive cerebellar ataxia, pyramidal signs, neuropathy, and macrosaccadic intrusions. To date, many...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Baishideng Publishing Group Inc
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8771376/ https://www.ncbi.nlm.nih.gov/pubmed/35097097 http://dx.doi.org/10.12998/wjcc.v10.i2.703 |