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Article

DYT16: the original cases.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2012

Camargos Sarah, Lees Andrew J, Singleton Andrew, Cardoso Francisco

Abstract excerpt

OBJECTIVE: DYT16 is an autosomal recessive dystonia-parkinsonism due to putative mutations at PRKRA gene. The aim of this study was to describe clinical features providing video documentation of patients with DYT16 dystonia. METHODS: We examined and videotaped all homozygous carriers of the DYT16 gene. RESULTS: We identified two phenotypes, generalised dystonia and dystonia-parkinsonism non-responsive to...

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Source

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Identifiers

PMID: 22842711
DOI: 10.1136/jnnp-2012-302841
PMCID: PMC6376866

Genes

PRKRA

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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