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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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| Publicado no: | J Int Med Res |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8236800/ https://ncbi.nlm.nih.gov/pubmed/34167352 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/03000605211021370 |
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