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Generation of a mouse model for Schwartz–Jampel syndrome

✍ Scribed by Morgane Stum; Emmanuelle Girard; Jordi Molgo; Nacira Tabti; Jean-Claude Willer; Bertrand Fontaine; Eric Krejci; Sophie Nicole

Book ID: 113747755
Publisher: Elsevier Science
Year: 2006
Tongue: English
Weight: 84 KB
Volume: 99
Category: Article
ISSN: 0928-4257
DOI: 10.1016/j.jphysparis.2005.12.073

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## Abstract A case of Schwartz‐Jampel syndrome with electrical, radiographic, biopsy, and pharmacological studies is presented along with a summary of the 12 other reported cases. Radiological study showed nonspecific but definite abnormalities. The muscle biopsy revealed myopathic and neurogenic f