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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Bibliografiske detaljer
Udgivet i:Front Neurol
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2019
Fag:
Neurology
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6560055/
https://ncbi.nlm.nih.gov/pubmed/31231303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2019.00580
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