Discover Community Create You

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

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

Movement disorders : official journal of the Movement Disorder Society - 15 May 2010

Wong Sui H, Steiger Malcolm J, Larner Andrew J, Fletcher Nicholas A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Dystonia
Share to SGCE gene
Share to Genetic Heterogeneity
Share to Myoclonus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Point Mutation

Share to Sarcoglycans

Source

Identifiers

PMID: 20222131
DOI: 10.1002/mds.23037

Genes

SGCE

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hereditary myoclonus dystonia (DYT11): a novel SGCE gene mutation with intrafamilial phenotypic heterogeneity.PMID 20222131Read ↗

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 ↗

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 ↗

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

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

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

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

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

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

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

Clinical findings of a myoclonus-dystonia family with two distinct mutations.Semantic proximity Read ↗

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