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[先天性及其他肌病]

[Congenital and other myopathies].

作者信息

Goebel H H, Müller H D, Schröder R

机构信息

Abteilung für Neuropathologie, Universitätsmedizin - Johannes-Gutenberg-Universität, Mainz, Deutschland.

出版信息

Pathologe. 2009 Sep;30(5):365-9. doi: 10.1007/s00292-009-1169-5.

Abstract

The myopathies presented here fall into two groups: Congenital myopathies and protein aggregate myopathies. These genetic conditions often require all modern diagnostic investigations, including histology, enzyme histochemistry, immunohistochemistry and electron microscopy to pave the way to an adequate individual molecular analysis and diagnosis. This is necessary to provide the patient and his or her family information about disease-characteristics or even disease-specific features. Distal myopathies, although caused by mutations in different genes, and toxic myopathies as acquired neuromuscular conditions largely provide non-specific morphological features a correct nosological interpretation of which only succeeds with additional non-morphological data.

摘要

此处介绍的肌病分为两组

先天性肌病和蛋白聚集性肌病。这些遗传性疾病通常需要所有现代诊断检查,包括组织学、酶组织化学、免疫组织化学和电子显微镜检查,以便为充分的个体分子分析和诊断铺平道路。这对于向患者及其家属提供有关疾病特征甚至疾病特异性特征的信息是必要的。远端肌病虽然由不同基因的突变引起,而中毒性肌病作为获得性神经肌肉疾病,在很大程度上提供非特异性形态学特征,只有通过额外的非形态学数据才能对其进行正确的疾病分类解释。

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