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Chondrodystrophic myotonia versus schwartz-jampel syndrome

✍ Scribed by Dr Donald C. Aberfeld


Publisher
John Wiley and Sons
Year
1979
Tongue
English
Weight
55 KB
Volume
5
Category
Article
ISSN
0364-5134

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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