[施瓦茨 - 詹佩尔综合征。病例报告及文献复习（作者译）]
[Schwartz-Jampel syndrome. A case report and review of literature (author's transl)].
作者信息
López-Terradas J M, Castroviejo I P, Gutiérrez M, Rodríguez Costa T
出版信息
An Esp Pediatr. 1979 Apr;12(4):345-58.
PMID:464408
Abstract
A new case with distinctive features of Schwartz-Jampel syndrome is reported, which makes the patient number 28 after reviewing world literature on the subject. Clinical, genetic, neurophysiological and pathological point of view is studied. The myotonic discharges which the patient presented while resting, did not diminish either with general anesthesia or with curarization, being this the pattern of a true myotonia.
摘要
本文报告了一例具有施瓦茨-扬佩尔综合征独特特征的新病例，经查阅该主题的世界文献后，此为第28例患者。从临床、遗传、神经生理和病理学角度进行了研究。患者静息时出现的肌强直放电，在全身麻醉或箭毒化时均未减弱，这是真正肌强直的表现形式。
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