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Mistaken diagnoses in continuous muscle fiber activity of peripheral nerve origin

โœ Scribed by Subramony, S.H.; Parker, Collette C.; Evans, Owen B.; Hanson, Rae R.


Book ID
123225838
Publisher
Elsevier Science
Year
1990
Tongue
English
Weight
292 KB
Volume
6
Category
Article
ISSN
0887-8994

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## Abstract Schwartzโ€“Jampel syndrome (SJS) is an autosomalโ€recessive condition characterized by muscle stiffness and chondrodysplasia. It is due to lossโ€ofโ€function hypomorphic mutations in the __HSPG2__ gene that encodes for perlecan, a proteoglycan secreted into the basement membrane. The origin