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Article

Isolated dystonia: clinical and genetic updates.

Journal of neural transmission (Vienna, Austria : 1996) - 1 Apr 2021

Domingo Aloysius, Yadav Rachita, Ozelius Laurie J

Abstract excerpt

Four genes associated with isolated dystonia are currently well replicated and validated. DYT-THAP1 manifests as young-onset generalized dystonia with predominant craniocervical symptoms; and is associated with mostly deleterious missense variation in the THAP1 gene. De novo and inherited missense and protein truncating variation in GNAL as well as primarily missense variation in ANO3 cause isolated focal and/or...

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Source

Identifiers

PMID: 33247415
DOI: 10.1007/s00702-020-02268-x

Genes

THAP1
ANO3
GNAL
TOR1A

Provenance

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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