| Literature DB >> 12781594 |
Emilia Mabel Gatto1, Manuel María Fernandez Pardal, Federico Eduardo Micheli.
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.Entities:
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Year: 2003 PMID： 12781594 DOI： 10.1016/s1353-8020(02)00128-1
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891