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Article

Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia.

Journal of medical genetics - 1 Sept 2010

Calakos Nicole, Patel Viren D, Gottron Melissa, Wang Gaofeng, Tran-Viet Khan-Nhat, Brewington Danielle, Beyer John L, Steffens David C, Krishnan Ranga R, Züchner Stephan

Abstract excerpt

BACKGROUND: TOR1A encodes a chaperone-like AAA-ATPase whose Delta GAG (Delta E) mutation is responsible for an early onset, generalised dystonia syndrome. Because of the established role of the TOR1A gene in heritable generalised dystonia (DYT1), a potential genetic contribution of TOR1A to the m...

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Source

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Identifiers

PMID: 19955557
DOI: 10.1136/jmg.2009.072082
PMCID: PMC2891583

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19955557-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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