A Novel SPG7 Gene Pathogenic Variant in a Cypriot Family With Autosomal Recessive Spastic Ataxia

The SPG7 gene encodes the paraplegin protein, an inner mitochondrial membrane—localized protease. It was initially linked to pure and complicated hereditary spastic paraplegia with cerebellar atrophy, and now represents a frequent cause of undiagnosed cerebellar ataxia and spastic ataxia. We hereby...

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Detalles Bibliográficos
Autores principales: Votsi, Christina, Ververis, Antonis, Nicolaou, Paschalis, Christou, Yiolanda-Panayiota, Christodoulou, Kyproula, Zamba-Papanicolaou, Eleni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793673/
https://www.ncbi.nlm.nih.gov/pubmed/35096021
http://dx.doi.org/10.3389/fgene.2021.812640

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793673/
https://www.ncbi.nlm.nih.gov/pubmed/35096021
http://dx.doi.org/10.3389/fgene.2021.812640

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