𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Evidence for progressive changes in clinical presentation of myoclonus-dystonia

✍ Scribed by Stéphane Thobois; Hélène Gervais-Bernard; Jing Xie-Brustolin; Julie Zyss; Karine Ostrowsky; Emmanuel Broussolle


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
46 KB
Volume
22
Category
Article
ISSN
0885-3185

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Clinical and genetic features of myoclon
✍ Norman Kock; Meike Kasten; Birgitt Schüle; Katja Hedrich; Karin Wiegers; Kemal K 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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.

Analysis of the ϵ-sarcoglycan gene in fa
✍ Enza-Maria Valente; Anjum Misbahuddin; Francesco Brancati; Mark R. Placzek; Barb 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 315 KB

## Abstract The ϵ‐sarcoglycan gene (SGCE) on human chromosome 7q21 has been reported to be a major locus for inherited myoclonus–dystonia. Linkage to the SGCE locus has been detected in the majority of families tested, and mutations in the coding region have been found recently in families with aut

Cover Picture: A Novel Mycolactone from
✍ Hui Hong; Jonathan B. Spencer; Jessica L. Porter; Peter F. Leadlay; Tim Stinear 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB

**The cover picture shows** the structure (in red, right) of the lipophilic polyketide toxin mycolactone obtained from the reference Ghana strain of __Mycobacterium ulcerans__, the causative agent of the emerging disease Buruli ulcer, and that (in red, left) of a molecular variant of mycolactone new