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Dystonia-deafness syndrome caused by a β-actin gene mutation and response to deep brain stimulation.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2017

Eggink Hendriekje, van Egmond Martje E, Verschuuren-Bemelmans Corien C, Schönherr Marleen C, de Koning Tom J, Oterdoom D L Marinus, van Dijk J Marc C, Tijssen Marina A J

Abstract excerpt

INTRODUCTION: Dystonia-deafness syndrome is a distinct clinical presentation within the dystonia-spectrum. Although several genetic and acquired causes have been reported, etiology remains unknown in the majority of patients. OBJECTIVES: To describe two patients with dystonia-deafness syndrome due to a beta-actin gene mutation. METHODS: We report on disease course, genetic testing, and management of 2 patients,...

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PMID: 27862284
DOI: 10.1002/mds.26842

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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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