A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family

CAPN1 encodes calpain-1, a large subunit of μ-calpain, a calcium-activated cysteine protease widely present in the central nervous system. Mutations in CAPN1 have recently been identified in a complicated form of Hereditary Spastic Paraplegia (HSP) with a combination of cerebellar ataxia and cortico...

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Detalles Bibliográficos
Autores principales: Cotti Piccinelli, Stefano, Bassi, Maria T., Citterio, Andrea, Manganelli, Fiore, Tozza, Stefano, Santorelli, Filippo M., Gallo Cassarino, Serena, Caria, Filomena, Baldelli, Enrico, Galvagni, Anna, Santoro, Lucio, Padovani, Alessandro, Filosto, Massimiliano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560055/
https://www.ncbi.nlm.nih.gov/pubmed/31231303
http://dx.doi.org/10.3389/fneur.2019.00580

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