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Article

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

Journal of neurology - 1 Jun 2011

Hartmann Christian Johannes, Leube Barbara, Wojtecki Lars, Betz Beate, Groiss Stefan Jun, Bauer Peter, Schnitzler Alfons, Südmeyer Martin

Abstract excerpt

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Source

Identifiers

PMID: 21267590
DOI: 10.1007/s00415-011-5911-6

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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A novel mutation of the SGCE-gene in a German family with myoclonus-dystonia syndrome.PMID 21267590Read ↗

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SGCE Myoclonus-Dystonia: An Inherited Movement Disorder.Semantic proximity Read ↗

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

[Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].Semantic proximity Read ↗

Myoclonus-dystonia (DYT11) with novel SGCE mutation misdiagnosed as a primary psychiatric disorder.Semantic proximity Read ↗

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

Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.Semantic proximity Read ↗

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

Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations.Semantic proximity Read ↗

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