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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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Bibliographische Detailangaben
Veröffentlicht in:J Pediatr Neurosci
Hauptverfasser: Gowda, Vykuntaraju K., Srinivasan, Varun M., Bhat, Maya, Benakappa, Asha
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2017
Schlagworte:
Online Zugang: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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