Clinical analysis in patients with SPG11 hereditary spastic paraplegia

BACKGROUND: To analyze the clinical phenotype of hereditary spastic paraplegia (HSP) caused by SPG11 mutations (SPG11-HSP). METHODS: Among the 17 patients with sporadic HSP who performed whole exome sequencing analysis, six were diagnosed with SPG11-HSP. The clinical and radiologic findings and the...

Descripción completa

Detalles Bibliográficos
Autores principales: Kang, You-Ri, Nam, Tai-Seung, Kim, Jae-Myung, Kang, Kyung Wook, Choi, Seong-Min, Lee, Seung-Han, Kim, Byeong C., Kim, Myeong-Kyu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10310533/
https://www.ncbi.nlm.nih.gov/pubmed/37396771
http://dx.doi.org/10.3389/fneur.2023.1198728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10310533/
https://www.ncbi.nlm.nih.gov/pubmed/37396771
http://dx.doi.org/10.3389/fneur.2023.1198728

Ejemplares similares