Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds
DH Chen, M Matsushita, S Rainier… - Archives of …, 2005 - jamanetwork.com
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 describe studies on a new
pedigree with PNKD, to explore the possibility of locus heterogeneity, and to further …
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 describe studies on a new
pedigree with PNKD, to explore the possibility of locus heterogeneity, and to further …