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Multigeneration family with dominant SPG30 hereditary spastic paraplegia
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three...
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| Publicado no: | Ann Clin Transl Neurol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5682118/ https://ncbi.nlm.nih.gov/pubmed/29159194 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.452 |
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