A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Tuğçe Aksu Uzunhan, Nafiye Emel Çakar, Serhat Seyhan, Kürşad Aydın
Topics & Concepts
HyperintensityHyperglycinemiaSpasticityMedicinePathologyLeukodystrophyMutationGeneticsBiologyDiseaseMagnetic resonance imagingGenePhysical therapyGlycineRadiologyAmino acidMetalloenzymes and iron-sulfur proteinsNeurological diseases and metabolismPorphyrin Metabolism and Disorders