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Article

Ataxia telangiectasia presenting as dopa-responsive cervical dystonia.

Neurology - 24 Sept 2013

Charlesworth Gavin, Mohire Mahavir D, Schneider Susanne A, Stamelou Maria, Wood Nicholas W, Bhatia Kailash P

Abstract excerpt

OBJECTIVE: To identify the cause of cervical dopa-responsive dystonia (DRD) in a Muslim Indian family inherited in an apparently autosomal recessive fashion, as previously described in this journal. METHODS: Previous testing for mutations in the genes known to cause DRD (GCH1, TH, and SPR) had been negative. Whole exome sequencing was performed on all 3 affected individuals for whom DNA was available to identify...

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Source

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Identifiers

PMID: 23946315
DOI: 10.1212/WNL.0b013e3182a55fa2
PMCID: PMC3795596

Genes

ATM
GCH1
SPR

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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