Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
Michael ZechKishore R KumarSophie ReiningJanine ReunertMichel TchanLisa G RileyAlexander P DrewRobert J AdamRiccardo BeruttiSaskia BiskupNicolas DeriveSomayeh BakhtiariSheng Chih JinMichael C KruerTanya BardakjianPedro Gonzalez-AlegreIgnacio J Keller SarmientoNiccolò Emanuele MencacciSteven J LubbeManju A KurianFabienne ClotAurélie MéneretJean-Madeleine de Sainte AgatheVictor S C FungMarie VidailhetMatthias BaumannThorsten MarquardtJuliane WinkelmannSylvia BoeschPublished in: Movement disorders : official journal of the Movement Disorder Society (2021)
Our findings suggest a likely causative role of predicted inactivating biallelic AOPEP variants in cases of autosomal recessive dystonia. Additional studies are warranted to understand the pathophysiology associated with loss-of-function variation in AOPEP. © 2021 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.