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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...

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Detalles Bibliográficos
Autores principales:	Huang, Xin, Fan, Dong-Sheng
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
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

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