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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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| Published in: | Front Neurol |
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| Main Authors: | , , , , , , , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Frontiers Media S.A.
2019
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| Subjects: | |
| Online Access: | 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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