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Article

The epsilon-sarcoglycan gene in myoclonic syndromes.

Neurology - 22 Feb 2005

Valente E M, Edwards M J, Mir P, DiGiorgio A, Salvi S, Davis M, Russo N, Bozi M, Kim H-T, Pennisi G, Quinn N, Dallapiccola B, Bhatia K P

Abstract excerpt

Mutations in the epsilon-sarcoglycan gene (SGCE) are associated with familial myoclonus dystonia, but the full spectrum of the phenotype may not be fully defined. We screened 58 individuals with a range of myoclonic/dystonic syndromes for SGCE mutations. We found mutations (three of them novel) i...

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Source

Identifiers

PMID: 15728306
DOI: 10.1212/01.WNL.0000151979.68010.9B

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15728306-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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