Myofibrillar Myopathies: A Clinical and Myopathological Guide
Myofibrillar Myopathies: A Clinical and Myopathological Guide
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DOI：
10.1111/j.1750-3639.2009.00289.x
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发表时间：
2009-07-01
期刊：
影响因子：
6.4
通讯作者：
Schoser, Benedikt
中科院分区：
文献类型：
--
作者：
Schroeder, Rolf;Schoser, Benedikt
肌原纤维肌病（MFM）的组织病理学特征是结蛋白阳性蛋白聚集和肌原纤维变性。由于MFM具有明显的表型和病理形态学变异性，因此诊断MFM是一项具有挑战性的任务。虽然MFM部分是由编码肌原纤维外蛋白（结蛋白，α B-晶体蛋白，果胶）或肌原纤维蛋白（肌球蛋白，Z-带选择性剪接含PDZ蛋白，细丝蛋白C，Bcl-2相关的athanogene-3，四个半LIM结构域1）的基因突变引起的，但大量这些疾病是由仍未解决的基因缺陷引起的。尽管近年来对MFM的发病机制有了新的认识，但从个体基因缺陷到进行性肌肉损伤的精确分子途径和顺序步骤仍不清楚。这篇综述集中在遗传定义的肌纤维膜的临床和肌病方面，并将为这一数值显著的蛋白聚集性肌病组提供诊断指南。
Myofibrillar myopathies (MFMs) are histopathologically characterized by desmin-positive protein aggregates and myofibrillar degeneration. Because of the marked phenotypic and pathomorphological variability, establishing the diagnosis of MFM can be a challenging task. While MFMs are partly caused by mutations in genes encoding for extramyofibrillar proteins (desmin, alpha B-crystallin, plectin) or myofibrillar proteins (myotilin, Z-band alternatively spliced PDZ-containing protein, filamin C, Bcl-2-associated athanogene-3, four-and-a-half LIM domain 1), a large number of these diseases are caused by still unresolved gene defects. Although recent years have brought new insight into the pathogenesis of MFMs, the precise molecular pathways and sequential steps that lead from an individual gene defect to progressive muscle damage are still unclear. This review focuses on the clinical and myopathological aspects of genetically defined MFMs, and shall provide a diagnostic guide for this numerically significant group of protein aggregate myopathies.