A Chinese Patient with Spastic Paraplegia Type 4 with a De Novo Mutation in the SPAST Gene

BACKGROUND: Spastic paraplegia type 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. Case Presentation. We report the case of a 27-year-old pregnant Chinese woman with HSP in whom we identified a missense mutation in the SPAST gene (c.149...

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Detalles Bibliográficos
Autores principales: Xu, Li, Peng, Zijuan, Zhou, Chunhui, Wang, Jiqing, Luo, Hunjin, Lu, Qin, Bao, Zhengjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8692052/
https://www.ncbi.nlm.nih.gov/pubmed/34950521
http://dx.doi.org/10.1155/2021/6636855

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