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Article

A mixed-ethnicity myoclonus-dystonia patient with a novel SGCE nonsense mutation: a case report.

BMC neurology - 5 Jan 2022

de Leon Meliza Angelica J, Rosales Raymond L, Klein Christine, Westenberger Ana

Abstract excerpt

BACKGROUND: Myoclonus-dystonia is a rare movement disorder with an autosomal dominant inheritance pattern characterized by a combination of myoclonic jerks and dystonia that may have psychiatric manifestations. Our aim is to present neurologic and psychiatric phenotypic characteristics in the first Filipino bi-ethnic myoclonus-dystonia patient and her father. CASE PRESENTATION: We investigated a Filipino...

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Identifiers

PMID: 34986800
DOI: 10.1186/s12883-021-02530-z
PMCID: PMC8729002

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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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