Clinical and genetic features of myoclonus–dystonia in 3 cases: A video presentation | Zendy

Kock Norman | Zendy; Kasten Meike | Zendy; Schüle Birgitt | Zendy; Hedrich Katja | Zendy; Wiegers Karin | Zendy; Kabakci Kemal | Zendy; Hagenah Johann | Zendy; Pramstaller Peter P. | Zendy; Nitschke Matthias F. | Zendy; Münchau Alexander | Zendy; Sperner Jürgen | Zendy; Klein Christine | Zendy

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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

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