Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review

Hereditary spastic paraplegia (HSP) represents a group of rare inherited neurodegenerative conditions and is characterized by progressive lower limb spasticity. Ubiquitin-associated protein 1 (UBAP1)-related HSP is classified as spastic paraplegia-80 (SPG80), which is an autosomal-dominant (AD) juve...

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Detalles Bibliográficos
Autores principales: Zhang, Chao, Zhu, Xiaowei, Zhu, Zeyu, Ni, Ruilong, Liu, Taotao, Zheng, Haoran, Liu, Shihua, Cao, Li, Zhong, Ping, Tian, Wotu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936171/
https://www.ncbi.nlm.nih.gov/pubmed/35321509
http://dx.doi.org/10.3389/fneur.2022.820202

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936171/
https://www.ncbi.nlm.nih.gov/pubmed/35321509
http://dx.doi.org/10.3389/fneur.2022.820202

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