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Article

Myoclonus in a patient with a deletion of the epsilon-sarcoglycan locus on chromosome 7q21.

American journal of medical genetics. Part A - 15 Aug 2003

DeBerardinis Ralph J, Conforto Danielle, Russell Karen, Kaplan Jennifer, Kollros Peter R, Zackai Elaine H, Emanuel Beverly S

Abstract excerpt

Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early as infancy. In most families, MDS is caused by mutations in the gene SGCE, which encodes epsilon -sarcoglycan and is located on chromosome 7q21. Data from several sources, including multi-generation pedigrees revealing parent-of-origin effects on MDS penetrance, suggest that SGCE is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12900898
DOI: 10.1002/ajmg.a.20162

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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