Case report: A novel WASHC5 variant altering mRNA splicing causes spastic paraplegia in a patient

Background: Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease. Mutations in the WASHC5 gene are associated with autosomal dominant HSP, spastic paraplegia 8 (SPG8). However, due to the small number of reported cases, the exact mechanism remains unclear. Metho...

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Detalles Bibliográficos
Autores principales: Gao, Shan-Yu, Liu, Yu-Xing, Dong, Yi, Fan, Liang-Liang, Ding, Qi, Liu, Lv
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644772/
https://www.ncbi.nlm.nih.gov/pubmed/38028608
http://dx.doi.org/10.3389/fgene.2023.1205052

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644772/
https://www.ncbi.nlm.nih.gov/pubmed/38028608
http://dx.doi.org/10.3389/fgene.2023.1205052

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