A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare n...

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Detalles Bibliográficos
Autores principales: Morikawa, Takuya, Miura, Shiroh, Tateishi, Takahisa, Noda, Kazuhito, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8149642/
https://www.ncbi.nlm.nih.gov/pubmed/34035234
http://dx.doi.org/10.1038/s41439-021-00153-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8149642/
https://www.ncbi.nlm.nih.gov/pubmed/34035234
http://dx.doi.org/10.1038/s41439-021-00153-x

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