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Article

No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.

European journal of neurology - 1 May 2008

Hjermind L E, Vissing J, Asmus F, Krag T, Lochmüller H, Walter M C, Erdal J, Blake D J, Nielsen J E

Abstract excerpt

Mutations in the epsilon-sarcoglycan gene (SGCE) can cause autosomal dominant inherited myoclonus-dystonia (M-D). Defects in other sarcoglycans; alpha-, beta-, gamma-, and delta can cause autosomal recessive inherited limb girdle muscular dystrophies. epsilon- and alpha-sarcoglycans are very homo...

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Source

Identifiers

PMID: 18355305
DOI: 10.1111/j.1468-1331.2008.02116.x

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18355305-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations.PMID 18355305Read ↗

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Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.Semantic proximity Read ↗

Analysis of the ϵ‐sarcoglycan gene in familial and sporadic myoclonus‐dystonia: Evidence for genetic heterogeneitySemantic proximity Read ↗

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.Semantic proximity Read ↗

Lack of mutations in the epsilon-sarcoglycan gene in patients with different subtypes of primary dystonias.Semantic proximity Read ↗

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

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ε-Sarcoglycan, a Broadly Expressed Homologue of the Gene Mutated in Limb-Girdle Muscular Dystrophy 2DSemantic proximity Read ↗

From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy.Semantic proximity Read ↗

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