Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia

Defects in FARS2 are associated with either epileptic phenotypes or a spastic paraplegia subtype known as SPG77. Here, we describe an 8-year-old patient with severe and complicated spastic paraplegia, carrying a missense variant (p.Pro361Leu) and a novel intragenic deletion in FARS2. Of note, the di...

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Detalles Bibliográficos
Autores principales: Panzeri, Elena, Citterio, Andrea, Martinuzzi, Andrea, Ancona, Vera, Martini, Eleonora, Bassi, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154595/
https://www.ncbi.nlm.nih.gov/pubmed/37152989
http://dx.doi.org/10.3389/fgene.2023.1130687

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10154595/
https://www.ncbi.nlm.nih.gov/pubmed/37152989
http://dx.doi.org/10.3389/fgene.2023.1130687

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