A Novel CAPN1 Mutation Causes a Pure Hereditary Spastic Paraplegia in an Italian Family
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DOI: 10.3389/fneur.2019.00580
Abstract: 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)… read more here.
Keywords: hereditary spastic; capn1 mutation; hsp; spastic paraplegia ... See more keywords