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Malignant hyperpyrexia in a patient with Schwartz-Jampel syndrome

โœ Scribed by Alan R. Seay; Fred A. Ziter


Book ID
119456889
Publisher
Elsevier Science
Year
1978
Tongue
English
Weight
157 KB
Volume
93
Category
Article
ISSN
1097-6833

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## Communicated by Christine Van Broeckhoven 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 eigh