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Article

Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.

Brain : a journal of neurology - 1 Oct 2007

Asmus Friedrich, Hjermind Lena Elisabeth, Dupont Erik, Wagenstaller Janine, Haberlandt Edda, Munz Marita, Strom Tim M, Gasser Thomas

Abstract excerpt

Myoclonus-dystonia (M-D, DYT11) is a dystonia plus syndrome characterized by brief myoclonic jerks predominantly of neck and upper limbs in combination with focal or segmental dystonia. It is caused by heterozygous mutations of the epsilon-sarcoglycan (SGCE) gene on chromosome 7q21.3. We present three patients with heterozygous large deletions in the 7q21.13-21.3 region. By quantitative analysis of single...

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Share to Chromosomes, Human, Pair 7
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17898012
DOI: 10.1093/brain/awm209

Genes

SGCE
DLX5
DLX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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