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Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation
Author(s) -
Kock Norman,
Kasten Meike,
Schüle Birgitt,
Hedrich Katja,
Wiegers Karin,
Kabakci Kemal,
Hagenah Johann,
Pramstaller Peter P.,
Nitschke Matthias F.,
Münchau Alexander,
Sperner Jürgen,
Klein Christine
Publication year - 2004
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.10635
Subject(s) - myoclonus , dystonia , mutation , presentation (obstetrics) , genetics , medicine , neuroscience , psychology , gene , biology , surgery
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