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Article

Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Nov 2009

Thümmler Susanne, Giuliano Fabienne, Pincemaille Olivier, Saugier-Veber Pascale, Perelman Serge

Abstract excerpt

Myoclonus dystonia is a rare movement disorder caused by mutations in the SGCE gene on chromosome 7q21 (DYT11) encoding the epsilon-sarcoglycan. Myoclonus is present in almost all patients and affects most often neck, trunk and upper limbs. Dystonia is present in about half of the patients. The mode of inheritance is autosomal dominant with variable clinical expression and maternal imprinting. Onset is usually in...

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Source

Identifiers

PMID: 19147379
DOI: 10.1016/j.ejpn.2008.11.009

Genes

SGCE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Myoclonus in fraternal twin toddlers: a French family with a novel mutation in the SGCE gene.PMID 19147379Read ↗

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

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A novel SGCE gene mutation causing myoclonus dystonia in a family with an unusual phenotype.Semantic proximity Read ↗

Hereditary Myoclonus Dystonia: A Novel SGCE Variant and Phenotype Including Intellectual Disability.Semantic proximity Read ↗

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.Semantic proximity Read ↗

Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.Semantic proximity Read ↗

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.Semantic proximity Read ↗

Japanese familial case of myoclonus-dystonia syndrome with a splicing mutation in SGCE.Semantic proximity Read ↗

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SGCE mutations cause psychiatric disorders: clinical and genetic characterization.Semantic proximity Read ↗

SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype.Semantic proximity Read ↗

A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.Semantic proximity Read ↗

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