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

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.

Movement disorders : official journal of the Movement Disorder Society - 31 Oct 2007

Asmus Friedrich, Devlin Anita, Munz Marita, Zimprich Alexander, Gasser Thomas, Chinnery Patrick F

Abstract excerpt

Because of clinical similarities, benign hereditary chorea and myoclonus-dystonia (DYT11) might be confused. No systematic comparisons of genetically proven cases with thyroid transcription factor-1 (TITF-1) and epsilon-sarcoglycan (SGCE) mutations have been performed to date. Three index patients and one index patients' daughter underwent genetic analysis of the TITF-1 and the SGCE gene. The movement disorders...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to Chorea

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dystonic Disorders

Share to Glycine

Share to Myoclonus

Share to Sarcoglycans

Share to Thyroid Nuclear Factor 1

Share to Valine

Source

Identifiers

PMID: 17702043
DOI: 10.1002/mds.21692

Genes

SGCE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia.PMID 17702043Read ↗

A novel TITF-1 mutation causes benign hereditary chorea with response to levodopaSemantic proximity Read ↗

Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause.Semantic proximity Read ↗

Childhood-Onset Myoclonus-Dystonia Due to KCTD17 Mutation: A Case Report and Review of Diagnostic Challenges.Semantic proximity Read ↗

Benign hereditary chorea: clinical and neuroimaging features in an Italian family.Semantic proximity Read ↗

"Jerky" dystonia in children: spectrum of phenotypes and genetic testing.Semantic proximity Read ↗

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

Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation.Semantic proximity Read ↗

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.Semantic proximity Read ↗

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

Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea.Semantic proximity Read ↗

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

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

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