## 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
Compressive myelopathy in the Schwartz-Jampel syndrome
✍ Scribed by David L. Smith; Robert Shoumaker; Robert Shuman
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 121 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0364-5134
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## Abstract Schwartz–Jampel syndrome (SJS) is an autosomal‐recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to loss‐of‐function hypomorphic mutations in the __HSPG2__ gene that encodes for perlecan, a proteoglycan secreted into the basement membrane. The origin
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