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Case of Childhood Ataxia with Central Nervous System Hypomyelination with a Novel Mutation in EIF2B3 gene

A 4-year-old boy presented with loss of motor milestones following viral fever. On examination, the child had increased tone and exaggerated deep tendon reflexes. Magnetic resonance imaging of the brain showed white matter hyperintensities on T2-weighted images, which revealed partial inversion on f...

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Vydáno v:J Pediatr Neurosci
Hlavní autoři: Gowda, Vykuntaraju K., Srinivasan, Varun M., Bhat, Maya, Benakappa, Asha
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5588653/
https://ncbi.nlm.nih.gov/pubmed/28904586
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_183_16
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