Biallelic <scp><i>AOPEP</i></scp> Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement

Abstract

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.