Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation.

Abstract excerpt

Gürbüz G, Mutlu Albayrak H. Schwartz Jampel syndrome responding positively to carbamazepine therapy: a case report and a novel mutation. Turk J Pediatr 2019; 61: 967-970. Schwartz Jampel syndrome was first described in 1962. It is an autosomal recessive disease with generalized myotonic myopathy and skeletal dysplasia. A mutation in the HSPG2 gene occurs. Approximately 150 cases have been reported in literature....

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anticonvulsants
• Share to Carbamazepine
• Share to Child, Preschool