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Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred

BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. This report describes a genetically proven SCA2 kindred with an atypical phenotype resembling SCA3. CASE REPORT: The phenotype of five genetically proven...

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Detalles Bibliográficos
Autores principales:	Prasad, Shweta, Holla, Vikram V., Pal, Pramod Kumar
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Ubiquity Press 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8344955/ https://www.ncbi.nlm.nih.gov/pubmed/34430069 http://dx.doi.org/10.5334/tohm.639

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