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Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Variants in family 1 kinesin (KIF1A), which encodes a kinesin axonal motor protein, have been described to cause variable neurological manifestations. Recessive missense variants have led to spastic paraplegia, and recessive truncations to sensory and autonomic neuropathy. De novo missense variants...
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| Pubblicato in: | Eur J Hum Genet |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4592090/ https://ncbi.nlm.nih.gov/pubmed/25585697 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.297 |
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