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Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report.

Parkinsonism & related disorders - 1 Nov 2022

Wu Qing, Jiang Yangyang, Lu Jianjun, Zhang Yong

Abstract excerpt

Myoclonus-dystonia caused by mutations in the SGCE gene is clinically characterized by early onset, myoclonus, and dystonia. Here we describe a family in which several members exhibit varying degrees of myoclonus and dystonia, caused by a novel heterozygous mutation in the SGCE gene.

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PMID: 36274329
DOI: 10.1016/j.parkreldis.2022.10.004

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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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