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D.P.2.10 Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome

✍ Scribed by A. Echaniz-Laguna; F. Rene; C. Marcel; M. Stum; B. Fontaine; J.P. Loeffler; S. Nicole

Book ID
116793494
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
63 KB
Volume
18
Category
Article
ISSN
0960-8966

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Electrophysiological studies in a mouse
Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin
✍ Andoni Echaniz-Laguna; Frédérique Rene; Christophe Marcel; Marie Bangratz; Bertr 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 323 KB

## Abstract Schwartz–Jampel syndrome (SJS) is an autosomal‐recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to loss‐of‐function hypomorphic mutations in the __HSPG2__ gene that encodes for perlecan, a proteoglycan secreted into the basement membrane. The origin