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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2023
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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 |