| Literature DB >> 18571946 |
M C F Gerrits1, E M J Foncke, J H T M Koelman, M A J Tijssen.
Abstract
Myoclonus-dystonia (M-D) is an autosomal dominantly inherited movement disorder with myoclonic jerks and dystonic contractions most frequently due to a mutation in the epsilon-sarcoglycan (SGCE, DYT11) gene. We describe two unrelated children with M-D (DYT11) who presented with writer's cramp. Due to maternal imprinting the family history appeared initially negative for M-D. In children with writer's cramp screening of the SGCE gene should be considered, even with a negative family history.Entities:
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Year: 2008 PMID： 18571946 DOI： 10.1016/j.ejpn.2008.03.007
Source DB: PubMed Journal: Eur J Paediatr Neurol ISSN： 1090-3798 Impact factor: 3.140