一例具有不寻常肌肉活检结果的施瓦茨-扬佩尔综合征病例。
A case of Schwartz-Jampel syndrome with unusual muscle biopsy findings.
作者信息
Fariello R, Meloff K, Murphy E G, Reilly B J, Armstrong D
出版信息
Ann Neurol. 1978 Jan;3(1):93-6. doi: 10.1002/ana.410030115.
PMID:655659
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.
摘要
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。
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引用本文的文献
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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.施瓦茨-扬佩尔综合征的遗传异质性：两个患有新生儿施瓦茨-扬佩尔综合征的家族并不定位于人类染色体1p34 - p36.1。
J Med Genet. 1997 Aug;34(8):685-7. doi: 10.1136/jmg.34.8.685.
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Stimulation single fibre EMG study in a patient with Schwartz-Jampel syndrome.施瓦茨-扬佩尔综合征患者的单纤维肌电图刺激研究。
J Neurol Neurosurg Psychiatry. 1996 Oct;61(4):425-6. doi: 10.1136/jnnp.61.4.425.
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Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.新生儿施瓦茨-扬佩尔综合征：阿联酋一种常见的常染色体隐性综合征。
J Med Genet. 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203.
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