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Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report

BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of neurogenetic diseases of the corticospinal tract, accompanied by distinct spasticity and weakness of the lower extremities. Mutations in the spastic paraplegia type 4 (SPG4) gene, encoding the spastin protein, are the major cause of the d...

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Detalles Bibliográficos
Autores principales: Wang, Jie, Bu, Wei-Ting, Zhu, Mei-Jia, Tang, Ji-You, Liu, Xiao-Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10237142/
https://www.ncbi.nlm.nih.gov/pubmed/37274038
http://dx.doi.org/10.12998/wjcc.v11.i14.3288