| Literature DB >> 19913450 |
Elisabeth M J Foncke1, Richard J Beukers, Cees C Tijssen, Johannes H T M Koelman, Marina A J Tijssen.
Abstract
We describe three genetically confirmed myoclonus dystonia (M-D) patients and one spinocerebellar ataxia type 14 (SCA14) patient, presenting with a combination of trunk tremor, multifocal myoclonus and axial dystonia as predominant clinical features. We suggest that in patients with this M-D phenotype, without a mutation in the DYT11 gene, SCA14 should be considered. Copyright 2009 Elsevier Ltd. All rights reserved.Entities:
Mesh：
Year: 2009 PMID： 19913450 DOI： 10.1016/j.parkreldis.2009.10.008
Source DB: PubMed Journal: Parkinsonism Relat Disord ISSN： 1353-8020 Impact factor: 4.891