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Article

Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis.

Archives of neurology - 1 Jul 2004

Rainier Shirley, Thomas Donald, Tokarz Debra, Ming Lei, Bui Melanie, Plein Erin, Zhao Xinping, Lemons Rosemary, Albin Roger, Delaney Colin, Alvarado David, Fink John K

Abstract excerpt

BACKGROUND: Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that occur spontaneously while at rest and following caffeine or alcohol consumption. Previously, we and others identified a locus for autosomal dominant PDC on chromosome 2q33-2q35. OBJECTIVE: To identify the PDC gene. DESIGN: Analysis of PDC positional candidate genes by exon sequencing and reverse...

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PMID: 15262732
DOI: 10.1001/archneur.61.7.1025

Genes

PDC

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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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