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Article

Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2004

Kock Norman, Kasten Meike, Schüle Birgitt, Hedrich Katja, Wiegers Karin, Kabakci Kemal, Hagenah Johann, Pramstaller Peter P, Nitschke Matthias F, Münchau Alexander, Sperner Jürgen, Klein Christine

Abstract excerpt

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-sarcoglycan (SGCE) gene. We describe 3 children with a similar clinical picture of autosomal dominant M-D and an SGCE mutation in only one of them, suggesting that M-D is genetically heterogeneous.

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Source

Identifiers

PMID: 14978685
DOI: 10.1002/mds.10635

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14978685-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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