AARS2-Related Leukodystrophy: a Case Report and Literature Review
Xiao Zhang, Jie Li, Yanyan Zhang, Meina Gao, Tao Peng, Tian Tian
Topics & Concepts
LeukodystrophyHyperreflexiaParkinsonismAtaxiaCorpus callosumCerebellar ataxiaWhite matterDysarthriaPathologyMissense mutationMedicineLeukoencephalopathyAtrophyNeurologySpasticityCompound heterozygosityGeneticsMutationBiologyAudiologyMagnetic resonance imagingGenePhysical medicine and rehabilitationPsychiatrySurgeryRadiologyDiseaseRNA regulation and diseaseMitochondrial Function and PathologyNeutrophil, Myeloperoxidase and Oxidative Mechanisms