Altered homodimer formation and increased iron accumulation in VAC14-related disease: Case report and review of the literature
H. Baumann, Sinem Tunç, Albrecht Günther, Alexander Münchau, Katja Lohmann, Norbert Brüggemann
Topics & Concepts
Compound heterozygosityDystoniaNeurodegenerationMissense mutationWild typeSpasticityExome sequencingMutationMedicineBiologyMutantPathologyNeuroscienceGeneticsDiseaseGenePhysical therapyNeurological diseases and metabolismMetalloenzymes and iron-sulfur proteinsGenomics and Rare Diseases