Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

doi:10.1002/mds.28804

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Article

Biallelic AOPEP Loss-of-Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2022

Zech Michael, Kumar Kishore R, Reining Sophie, Reunert Janine, Tchan Michel, Riley Lisa G, Drew Alexander P, Adam Robert J, Berutti Riccardo, Biskup Saskia, Derive Nicolas, Bakhtiari Somayeh, Jin Sheng Chih, Kruer Michael C, Bardakjian Tanya, Gonzalez-Alegre Pedro, Keller Sarmiento Ignacio J, Mencacci Niccolo E, Lubbe Steven J, Kurian Manju A, Clot Fabienne, Méneret Aurélie, de Sainte Agathe Jean-Madeleine, Fung Victor S C, Vidailhet Marie, Baumann Matthias, Marquardt Thorsten, Winkelmann Juliane, Boesch Sylvia

Abstract excerpt

BACKGROUND: Monogenic causes of isolated dystonia are heterogeneous. Assembling cohorts of affected individuals sufficiently large to establish new gene-disease relationships can be challenging. OBJECTIVE: We sought to expand the catalogue of monogenic etiologies for isolated dystonia. METHODS: After the discovery of a candidate variant in a multicenter exome-sequenced cohort of affected individuals with...

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PMID: 34596301
DOI: 10.1002/mds.28804

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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