Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz–Jampel syndrome neuromyotonia

Author:

Stum Morgane,Girard Emmanuelle,Bangratz Marie,Bernard Véronique,Herbin Marc,Vignaud Alban,Ferry Arnaud,Davoine Claire-Sophie,Echaniz-Laguna Andoni,René Frédérique,Marcel Christophe,Molgó Jordi,Fontaine Bertrand,Krejci Eric,Nicole Sophie

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference50 articles.

1. Perlecan: Schwartz–Jampel syndrome (SJS, MIM 255800) and dyssegmental dysplasia, Silverman-Handmaker type (DDSH, MIM 224410);Nicole,2008

2. Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz–Jampel syndrome (chondrodystrophic myotonia);Nicole;Nature Genet.,2000

3. Basement membrane proteoglycans: from cellar to ceiling;Iozzo;Nat. Rev. Mol. Cell. Biol.,2005

4. Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz–Jampel syndrome;Stum;Hum. Mutat.,2006

5. Structural and functional mutations of the perlecan gene cause Schwartz–Jampel syndrome, with myotonic myopathy and chondrodysplasia;Arikawa-Hirasawa;Am. J. Hum. Genet.,2002

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