Homozygous spinocerebellar ataxia type 3 in China: a case report

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disease caused by a heterozygous CAG repeat expansion in the ataxin 3 gene (ATXN3). However, patients with homozygous SCA3 carrying expanded CAG repeats in both alleles of ATXN3 are extremely rare. Herein, we present a case of a 50-year-old...

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Detalles Bibliográficos
Autores principales: Chen, Yuchao, Li, Dan, Wei, Minger, Zhou, Menglu, Zhang, Linan, Yu, Jiaoyang, Qiu, Mengqiu, Jin, Yi, Lu, Xiaodong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236800/
https://www.ncbi.nlm.nih.gov/pubmed/34167352
http://dx.doi.org/10.1177/03000605211021370

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