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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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| Publicado no: | Neurology |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Lippincott Williams & Wilkins
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4932233/ https://ncbi.nlm.nih.gov/pubmed/27281532 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000002813 |
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