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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| Hlavní autoři: | , , , , , , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Frontiers Media S.A.
2019-06-01
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| Edice: | Frontiers in Neurology |
| Témata: | |
| On-line přístup: | https://www.frontiersin.org/article/10.3389/fneur.2019.00580/full |
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