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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Detalles Bibliográficos
Autores principales: Roda, Ricardo H., Schindler, Alice B., Blackstone, Craig
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Brief Communications
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682118/
https://www.ncbi.nlm.nih.gov/pubmed/29159194
http://dx.doi.org/10.1002/acn3.452

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5682118/
https://www.ncbi.nlm.nih.gov/pubmed/29159194
http://dx.doi.org/10.1002/acn3.452

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