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Article

Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia.

Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2014

Cheng Fu-Bo, Feng Jia-Chun, Ma Ling-Yan, Miao Jing, Ott Thomas, Wan Xin-Hua, Grundmann Kathrin

Abstract excerpt

BACKGROUND: The ΔGAG deletion of the TOR1A gene (DYT1) is responsible for DYT1 dystonia. However, no other TOR1A mutation has been reported in the Chinese population. METHODS: Two hundred one dystonia patients without the ΔGAG deletion were screened for other mutations in TOR1A. Gene function changes were analyzed by subcellular distribution and luciferase reporter assay. RESULTS: A novel TOR1A mutation...

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Source

Identifiers

PMID: 24862462
DOI: 10.1002/mds.25921

Genes

THAP1

Variants

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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