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Article

Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.

Archives of neurology - 1 Apr 2005

Chen Dong-Hui, Matsushita Mark, Rainier Shirley, Meaney Brandon, Tisch Lisa, Feleke Abreham, Wolff John, Lipe Hillary, Fink John, Bird Thomas D, Raskind Wendy H

Abstract excerpt

BACKGROUND: Paroxysmal nonkinesigenic dyskinesia (PNKD) is a rare disorder characterized by attacks of involuntary movements brought on by stress, alcohol, or caffeine, but not by movement. An autosomal dominant form of this disorder was mapped to chromosome 2q33-36, and different missense mutations in exon 1 of the myofibrillogenesis regulator 1 (MR1) gene were identified recently in 2 kindreds. OBJECTIVES: To...

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PMID: 15824259
DOI: 10.1001/archneur.62.4.597

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PNKD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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