A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

Individuals with hereditary spastic paraplegia (HSP) are known to present with a variety of symptoms, including intellectual disability, cognitive decline, parkinsonism, and epilepsy. We report here our experience of treating a family with consanguinity, including three patients with HSP-related sym...

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Detalles Bibliográficos
Autores principales: Daida, Kensuke, Nishioka, Yosuke, Li, Yuanzhe, Yoshino, Hiroyo, Funayama, Manabu, Hattori, Nobutaka, Nishioka, Kenya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749458/
https://www.ncbi.nlm.nih.gov/pubmed/35036589
http://dx.doi.org/10.1016/j.ensci.2021.100391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8749458/
https://www.ncbi.nlm.nih.gov/pubmed/35036589
http://dx.doi.org/10.1016/j.ensci.2021.100391

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