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Article

Myoclonus-dystonia due to maternal uniparental disomy.

Archives of neurology - 1 Oct 2008

Guettard Emilie, Portnoi Marie-France, Lohmann-Hedrich Katja, Keren Boris, Rossignol Sylvie, Winkler Susen, El Kamel Imen, Leu Smaranda, Apartis Emmanuelle, Vidailhet Marie, Klein Christine, Roze Emmanuel

Abstract excerpt

BACKGROUND: Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES: To describe and...

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Source

Identifiers

PMID: 18852357
DOI: 10.1001/archneur.65.10.1380

Genes

SGCE

Provenance

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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