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Article

Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.

Movement disorders : official journal of the Movement Disorder Society - 15 Jun 2007

Chung Eun Joo, Lee Won Yong, Kim Ji-Youn, Kim Jong-Hun, Kim Gyeong-Moon, Ki Chang Seok, Kim In-Suk

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Source

Identifiers

PMID: 17394247
DOI: 10.1002/mds.21093

Genes

SGCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease.PMID 17394247Read ↗

Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia.Semantic proximity Read ↗

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

Clinical features and genetic analysis of SGCE myoclonus-dystonia: A case report.Semantic proximity Read ↗

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

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

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

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

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

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

Heterozygous YY1 mutation - A mimicker of SGCE-myoclonus-dystonia.Semantic proximity Read ↗

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

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

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