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

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

Publisher
John Wiley and Sons
Year
2004
Tongue
English
Weight
542 KB
Volume
19
Category
Article
ISSN
0885-3185

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✦ Synopsis

Many cases of myoclonus-dystonia (M-D) are caused by mutations in the epsilon-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.

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