Article
Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease.
Journal of clinical neuromuscular disease - 1 Dec 2015
Nguyen Thy P, Biliciler Suur, Wiszniewski Wojciech, Sheikh Kazim
Abstract excerpt
OBJECTIVE: In the past decade, hereditary forms of motor neuron disease (spinal muscular atrophy and/or amyotrophic lateral sclerosis) are increasingly identified. As advanced genetic testing is performed, molecular diagnosis can be obtained. Identifying new gene mutations can lead to further understanding of disease. METHODS AND RESULTS: We report a single case of a patient with early-onset amyotrophic lateral...
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