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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

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