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5.
Handb Clin Neurol ; 84: 399-416, 2007.
Article in English | MEDLINE | ID: mdl-18808960
6.
Parkinsonism Relat Disord ; 9(5): 277-9, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12781594

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.


Subject(s)
Carrier Proteins/genetics , Dystonia/genetics , Molecular Chaperones , Myoclonus/genetics , Female , Humans , Middle Aged , Pedigree , Phenotype
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