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Novel de novo mutations in KIF1A as a cause of hereditary spastic paraplegia with progressive central nervous system involvement
Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of disorders characterized by lower extremity spasticity and weakness. Recently, the first de novo mutations in KIF1A were identified in patients with an early onset severe form of complicated HSP. We report t...
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| Publié dans: | J Child Neurol |
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| Auteurs principaux: | , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5030766/ https://ncbi.nlm.nih.gov/pubmed/27034427 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073816639718 |
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