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Article

Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia.

American journal of human genetics - 4 Jun 2015

Zech Michael, Lam Daniel D, Francescatto Ludmila, Schormair Barbara, Salminen Aaro V, Jochim Angela, Wieland Thomas, Lichtner Peter, Peters Annette, Gieger Christian, Lochmüller Hanns, Strom Tim M, Haslinger Bernhard, Katsanis Nicholas, Winkelmann Juliane

Abstract excerpt

Isolated dystonia is a disorder characterized by involuntary twisting postures arising from sustained muscle contractions. Although autosomal-dominant mutations in TOR1A, THAP1, and GNAL have been found in some cases, the molecular mechanisms underlying isolated dystonia are largely unknown. In addition, although emphasis has been placed on dominant isolated dystonia, the disorder is also transmitted as a...

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Identifiers

PMID: 26004199
DOI: 10.1016/j.ajhg.2015.04.010
PMCID: PMC4457951

Genes

GNAL
THAP1

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.

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