Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis
S Rainier, D Thomas, D Tokarz, L Ming… - Archives of …, 2004 - jamanetwork.com
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 thePDCgene. Design Analysis
ofPDCpositional candidate genes by exon sequencing and reverse transcription–
polymerase chain reaction. Setting Outpatient clinical and molecular genetic laboratory at a …
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 thePDCgene. Design Analysis
ofPDCpositional candidate genes by exon sequencing and reverse transcription–
polymerase chain reaction. Setting Outpatient clinical and molecular genetic laboratory at a …