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Mutation in KIF5A c.610C>T Causing Hereditary Spastic Paraplegia with Axonal Sensorimotor Neuropathy
Hereditary spastic paraplegias (HSP) are a rare heterogeneous group of inherited neurodegenerative diseases characterized by progressive lower extremity spasticity and weakness. Mutations of the kinesin family member 5A (KIF5A) gene lead to a spectrum of phenotypes ranging from spastic paraplegia ty...
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| Izdano u: | Case Rep Neurol |
|---|---|
| Glavni autori: | , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
S. Karger AG
2018
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6062669/ https://ncbi.nlm.nih.gov/pubmed/30057544 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000490456 |
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