| Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. | |
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MedLine Citation:
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PMID: 18571946 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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M C F Gerrits; E M J Foncke; J H T M Koelman; M A J Tijssen |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2008-06-20 |
Journal Detail:
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Title: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society Volume: 13 ISSN: 1532-2130 ISO Abbreviation: Eur. J. Paediatr. Neurol. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-03-02 Completed Date: 2009-05-13 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9715169 Medline TA: Eur J Paediatr Neurol Country: England |
Other Details:
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Languages: eng Pagination: 178-80 Citation Subset: IM |
Affiliation:
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Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands. mignongerrits@hotmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Dystonic Disorders / diagnosis*, genetics*, physiopathology Family Health Genomic Imprinting Humans Male Mutation Myoclonus / diagnosis*, genetics*, physiopathology Pedigree Sarcoglycans / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Sarcoglycans |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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