Article
Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome.
Human mutation - 1 Nov 2006
Stum Morgane, Davoine Claire-Sophie, Vicart Savine, Guillot-Noël Léna, Topaloglu Haluk, Carod-Artal Francisco Javier, Kayserili Hülya, Hentati Fayçal, Merlini Luciano, Urtizberea Jon Andoni, Hammouda El-Hadi, Quan Phuc Canh, Fontaine Bertrand, Nicole Sophie
Abstract excerpt
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive condition defined by the association of myotonia with chondrodysplasia. SJS results from mutations in the HSPG2 gene, which encodes perlecan, a major component of basement membranes. Only eight HSPG2 mutations have been reported in six SJS families. Here, we describe the molecular findings in 23 families (35 patients) with SJS, being one-third of the...
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