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Article

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence.

Human molecular genetics - 15 Mar 2009

Ghezzi Daniele, Viscomi Carlo, Ferlini Alessandra, Gualandi Francesca, Mereghetti Paolo, DeGrandis Domenico, Zeviani Massimo

Abstract excerpt

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal-dominant movement disorder characterized by attacks of dystonia, chorea and athetosis. Myofibrillogenesis regulator-1 (MR-1), the gene responsible for PNKD, is transcribed into three alternatively spliced forms: long (MR-1L), medium (MR-1M) and small (MR-1S). Two mutations, A7V and A9V, were previously discovered in the N-terminal region common to MR-1L...

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Identifiers

PMID: 19124534
DOI: 10.1093/hmg/ddn441

Genes

PNKD

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