Article
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).
Nature genetics - 1 Dec 2000
Nicole S, Davoine C S, Topaloglu H, Cattolico L, Barral D, Beighton P, Hamida C B, Hammouda H, Cruaud C, White P S, Samson D, Urtizberea J A, Lehmann-Horn F, Weissenbach J, Hentati F, Fontaine B
Abstract excerpt
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. Electromyographic investigations reveal repetitive muscle discharges, which may originate from both neurogenic and myogenic alterations. We...
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