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Article

Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.

Irish journal of medical science - 1 Jan 2000

O'Riordan S, Cockburn D, Barton D, Lynch T, Hutchinson M

Abstract excerpt

BACKGROUND: Early, limb-onset primary torsion dystonia (PTD) is commonly due to a trinucleotide GAG deletion in the TOR1A (DYT1) gene on chromosome 9q34. The majority of carriers of this mutation conform to a characteristic phenotype that is similar in different ethnic populations. AIM: To describe the clinical features of affected members of a large Irish family with PTD due to the TOR1A deletion. METHODS:...

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PMID: 11993591
DOI: 10.1007/BF03168938

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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