A novel mutation in the GBA2 gene in a Japanese patient with SPG46: A case report

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the lower limbs, mental retardation, congenital bilate...

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Detalles Bibliográficos
Publicado en:eNeurologicalSci
Autores principales: Nakamura-Shindo, Keiko, Ono, Kenjiro, Koh, Kishin, Ishiura, Hiroyuki, Tsuji, Shoji, Takiyama, Yoshihisa, Yamada, Masahito
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2020
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7139103/
https://ncbi.nlm.nih.gov/pubmed/32280793
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ensci.2020.100238
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