Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation
2003; Wiley; Volume: 19; Issue: 2 Linguagem: Inglês
10.1002/mds.10635
ISSN1531-8257
AutoresNorman Kock, Meike Kasten, Birgitt Schüle, Katja Hedrich, Karin Wiegers, Kemal Kabakci, Johann Hagenah, Peter P. Pramstaller, Matthias Nitschke, Alexander Münchau, Jürgen Sperner, Christine Klein,
Tópico(s)Genetic Neurodegenerative Diseases
ResumoAbstract Many cases of myoclonus–dystonia (M‐D) are caused by mutations in the ϵ‐ sarcoglycan ( SGCE ) gene. We describe 3 children with a similar clinical picture of autosomal dominant M‐D and an SGCE mutation in only one of them, suggesting that M‐D is genetically heterogeneous. © 2003 Movement Disorder Society
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