Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel...
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
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Author / Creator
Nicole, Sophie , Davoine, Claire-Sophie , Topaloglu, Haluk , Cattolico, Laurence , Barral, Duarte , Beighton, Peter , Hamida, Christiane Ben , Hammouda, Hadi , Cruaud, Corinne , White, Peter S. , Samson, Delphine , Urtizberea, J. Andoni , Lehmann-Horn, Franck , Weissenbach, Jean , Hentati, Faycal and Fontaine, Bertrand
Publisher
New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses
1
. Electromyographic investigations reveal repetitive muscle discharges, whic...
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Full title
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
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Record Identifier
TN_cdi_proquest_miscellaneous_856760842
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_856760842
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ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/82638
