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Article

AOPEP variants as a novel cause of recessive dystonia: Generalized dystonia and dystonia-parkinsonism.

Parkinsonism & related disorders - 1 Apr 2022

Garavaglia Barbara, Vallian Sadeq, Romito Luigi M, Straccia Giulia, Capecci Marianna, Invernizzi Federica, Andrenelli Elisa, Kazemi Arezu, Boesch Sylvia, Kopajtich Robert, Olfati Nahid, Shariati Mohammad, Shoeibi Ali, Sadr-Nabavi Ariane, Prokisch Holger, Winkelmann Juliane, Zech Michael

Abstract excerpt

INTRODUCTION: The genetic basis of autosomal-recessive dystonia remains poorly understood. Our objective was to report identification of additional individuals with variants in AOPEP, a recently described gene for recessively inherited dystonic disorders (OMIM:619565). METHODS: Ongoing analysis on a high-throughput genetic platform and international case-recruitment efforts were undertaken. RESULTS: Novel...

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PMID: 35306330
DOI: 10.1016/j.parkreldis.2022.03.007

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