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A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings

✍ Scribed by Ruggero Fariello; Keith Meloff; E. Gordon Murphy; Bernard J. Reilly; Dawna Armstrong

Publisher: John Wiley and Sons
Year: 1978
Tongue: English
Weight: 560 KB
Volume: 3
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410030115

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✦ Synopsis

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 features. No drug was effective in reducing our patient's stiffness.

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