Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Neurology - 22 Jul 2003

Han F, Lang A E, Racacho L, Bulman D E, Grimes D A

Abstract excerpt

Myoclonus-dystonia syndrome (MDS) is a disorder for which the major cause appears to be mutations in the epsilon-sarcoglycan gene (SGCE). The authors have now performed mutation screening in 22 affected individuals from seven families with findings of typical MDS. A novel 5-bp deletion in exon 7...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cytoskeletal Proteins
Share to Dystonic Disorders
Share to Exons

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Membrane Glycoproteins

Share to Myoclonus

Share to Sarcoglycans

Share to Sequence Deletion

Source

Identifiers

PMID: 12874409
DOI: 10.1212/01.wnl.0000073142.40185.c1

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12874409-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families.PMID 12874409Read ↗

The epsilon-sarcoglycan gene in myoclonic syndromes.Semantic proximity Read ↗

Myoclonus‐dystonia due to genomic deletions in the epsilon‐sarcoglycan geneSemantic proximity Read ↗

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

Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype.Semantic proximity Read ↗

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

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.Semantic proximity Read ↗

Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.Semantic proximity Read ↗

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

A novel conserved mutation in SGCE gene in 3 unrelated patients with classical phenotype myoclonus-dystonia syndrome.Semantic proximity Read ↗

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

A novel SGCE variant is associated with myoclonus-dystonia with phenotypic variability.Semantic proximity Read ↗

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.