Fariello R, Meloff K, Murphy E G, Reilly B J, Armstrong D
Ann Neurol. 1978 Jan;3(1):93-6. doi: 10.1002/ana.410030115.
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.
本文报告了一例施瓦茨-扬佩尔综合征病例，并进行了电生理、影像学、活检及药理学研究，同时总结了其他12例已报道病例。影像学研究显示出非特异性但明确的异常。肌肉活检显示出肌病和神经源性特征。没有药物能有效减轻我们这位患者的僵硬症状。
