AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism
Barbara Garavaglia, Sadeq Vallian, Luigi Romito, Giulia Straccia, Marianna Capecci, Federica Invernizzi, Elisa Andrenelli, Arezu Kazemi, Sylvia Boesch, Robert Kopajtich, Nahid Olfati, Mohammad Shariati, Ali Shoeibi, Ariane Sadr‐Nabavi, Holger Prokisch, Juliane Winkelmann, Michael Zech
Topics & Concepts
DystoniaParkinsonismGeneticsMissense mutationAlleleMedicineNonsenseConsanguinityCompound heterozygosityPhenotypeBiologyGenePsychiatryDiseaseInternal medicineHereditary Neurological DisordersGenomics and Rare DiseasesNeurological diseases and metabolism