Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
Philip Harrer,Matej Skorvanek,Volker Kittke,Ivana Dzinovic,Friederike Borngraeber,Mirja Thomsen,Vanessa Mandel,Tatiana Svorenova,Miriam Ostrozovicova,Kristina Kulcsarova,Riccardo Berutti,Hauke Busch,Fabian Ott,Robert Kopajtich,Holger Prokisch,Kishore R. Kumar,Niccolo E. Mencacci,Manju A. Kurian,Alessio Di Fonzo,Sylvia Boesch,Andrea A. Kuehn,Ulrike Bluemlein,Katja Lohmann,Bernhard Haslinger,David Weise,Robert Jech,Juliane Winkelmann,Michael Zech MOVEMENT DISORDERS（2023）
Key words
loss-of-function variants,translational dysfunction,dystonia,tremor
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