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Article

De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.

Human molecular genetics - 1 Jul 1998

Klein C, Brin M F, de Leon D, Limborska S A, Ivanova-Smolenskaya I A, Bressman S B, Friedman A, Markova E D, Risch N J, Breakefield X O, Ozelius L J

Abstract excerpt

The DYT1 gene recently has been cloned and shown to contain a three nucleotide (GAG) deletion responsible for most cases of autosomal dominant early-onset torsion dystonia. This deletion results in the loss of one of a pair of glutamic acids in a conserved region of a novel ATP-binding protein (torsinA). Previous haplotype analysis revealed that this same deletion had arisen at least two different times in...

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PMID: 9618171
DOI: 10.1093/hmg/7.7.1133

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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De novo mutations (GAG deletion) in the DYT1 gene in two non-Jewish patients with early-onset dystonia.PMID 9618171Read ↗

DYT1 mutation in French families with idiopathic torsion dystonia.Semantic proximity Read ↗

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Intrafamilial phenotypic and genetic heterogeneity of dystonia.Semantic proximity Read ↗

The TOR1A (DYT1) gene family and its role in early onset torsion dystonia.Semantic proximity Read ↗

Frequency and phenotypic variability of the GAG deletion of the DYT1 gene in an unselected group of patients with dystonia.Semantic proximity Read ↗

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?Semantic proximity Read ↗

Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.Semantic proximity Read ↗

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinSemantic proximity Read ↗

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