Article
Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.
Neurology - 5 Jul 2016
Stoll Marion, Teoh Hooiling, Lee James, Reddel Stephen, Zhu Ying, Buckley Michael, Sampaio Hugo, Roscioli Tony, Farrar Michelle, Nicholson Garth
Abstract excerpt
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 VRK1 gene in the affected members of 2 families. In family 1, compound heterozygous mutations were identified in...
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