A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report

Hereditary spastic paraplegia (HSP) comprises a group of hereditary and neurodegenerative diseases that are characterized by axonal degeneration or demyelination of bilateral corticospinal tracts in the spinal cord; affected patients exhibit progressive spasticity and weakness in the lower limbs. Th...

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Detalles Bibliográficos
Autores principales: Wang, Xing-Chen, Liu, Rui-Han, Wang, Ting, Wang, Yanling, Jiang, Yan, Chen, Dan-Dan, Wang, Xin-Yu, Hou, Tong-Shu, Kong, Qing-Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018243/
https://www.ncbi.nlm.nih.gov/pubmed/36825575
http://dx.doi.org/10.3892/mmr.2023.12966

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10018243/
https://www.ncbi.nlm.nih.gov/pubmed/36825575
http://dx.doi.org/10.3892/mmr.2023.12966

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