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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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S. Karger AG
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6062669/ https://www.ncbi.nlm.nih.gov/pubmed/30057544 http://dx.doi.org/10.1159/000490456 |