Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia

OBJECTIVE: To describe the phenotypes in 2 families with vaccinia-related kinase 1 (VRK1) mutations including one novel VRK1 mutation. METHODS: VRK1 mutations were found by whole exome sequencing in patients presenting with motor neuron disorders. RESULTS: We identified pathogenic mutations in the V...

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Detalles Bibliográficos
Autores principales: Stoll, Marion, Teoh, Hooiling, Lee, James, Reddel, Stephen, Zhu, Ying, Buckley, Michael, Sampaio, Hugo, Roscioli, Tony, Farrar, Michelle, Nicholson, Garth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932233/
https://www.ncbi.nlm.nih.gov/pubmed/27281532
http://dx.doi.org/10.1212/WNL.0000000000002813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932233/
https://www.ncbi.nlm.nih.gov/pubmed/27281532
http://dx.doi.org/10.1212/WNL.0000000000002813

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