𝔖 Bobbio Scriptorium
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Workshop 3A.6: Case presentations and discussion Presentations and audience participation in diagnosis and clinical decision making

✍ Scribed by Scott Haldeman; Tony Rosner; Haymo Thiel; Ricardo Fujikawa


Book ID
116365911
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
50 KB
Volume
13
Category
Article
ISSN
1479-2354

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Clinical and genetic features of myoclon
✍ Norman Kock; Meike Kasten; Birgitt SchΓΌle; Katja Hedrich; Karin Wiegers; Kemal K πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 542 KB

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.