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Article

Atypical phenotypes of DYT1 dystonia in three children.

Brain & development - 1 Apr 2013

Yilmaz Unsal, Yüksel Deniz, Atac F Belgin, Yilmaz Deniz, Verdi Hasibe, Senbil Nesrin

Abstract excerpt

UNLABELLED: DYT-1 dystonia is the most common primary dystonia seen in childhood. It is an autosomal dominantly inherited disorder caused by deletion of a GAG triplet in exon 5 of the DYT1 gene. It characteristically starts in a distal limb during late childhood, subsequently spreads to involve other body regions sparing oromandibular muscles. However, clinical presentation can vary remarkably with respect to...

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Identifiers

PMID: 22770546
DOI: 10.1016/j.braindev.2012.06.001

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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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