Clinical features and genetic characteristics of homozygous spinocerebellar ataxia type 3

BACKGROUND: Homozygous spinocerebellar ataxia type 3 (SCA3) patients, which have an expanded cytosine‐adenine‐guanine (CAG) repeat mutation in both alleles of ATXN3, are extremely rare. Clinical features and genetic characteristics of them were seldom studied. METHODS: We analyzed seven newly homozy...

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Detalles Bibliográficos
Autores principales: Li, Quan-Fu, Cheng, Hao‐Ling, Yang, Lu, Ma, Yin, Zhao, Jing‐Jing, Dong, Yi, Wu, Zhi‐Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507100/
https://www.ncbi.nlm.nih.gov/pubmed/32643267
http://dx.doi.org/10.1002/mgg3.1314

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507100/
https://www.ncbi.nlm.nih.gov/pubmed/32643267
http://dx.doi.org/10.1002/mgg3.1314

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