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Article

Genetic background modulates the phenotype of a mouse model of DYT1 dystonia.

PloS one - 1 Jan 2012

Tanabe Lauren M, Martin Caitlin, Dauer William T

Abstract excerpt

DYT1 dystonia is a debilitating neurological disease characterized by involuntary twisting movements. The disease is caused by an in-frame deletion (GAG, "ΔE") mutation in the TOR1A gene that encodes the torsinA protein. Intriguingly, only 30% of mutation carriers exhibit motor symptoms despite the fact that functional brain imaging studies show abnormal brain metabolism in all carriers. Because genetic modifiers...

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Identifiers

PMID: 22393392
DOI: 10.1371/journal.pone.0032245
PMCID: PMC3290549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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