title: Unusual phenotypic expression of the DYT1 mutation.
abstract: Highly variable phenotype expression has long been recognized in DYT1 carrier patients. We report here an Ashkenazi-Jewish woman who carried a DYT1 mutation and developed a predominant unilateral myoclonic-dystonia (MD) displaying a fluctuating course. The present case is the second supporting the variability of DYT1 phenotype and further illustrates its ability to mimic the MD syndrome.
authors.affiliation: Parkinson's Disease and Abnormal Movements Program, Institute of Neurosciences, University Hospital, University of Buenos Aires, Juramento 1155, 3 degrees A, C1428DMK, Buenos Aires, Argentina. emilagatto@gibertel.com.ar
authors.forename: Emilia Mabel
authors.initials: EM
authors.lastname: Gatto
authors.forename: Manuel María Fernandez
authors.initials: MM
authors.lastname: Pardal
authors.forename: Federico Eduardo
authors.initials: FE
authors.lastname: Micheli
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D004421:Dystonia / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018832:Molecular Chaperones; D009207:Myoclonus / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human