肌原纤维肌病。
Myofibrillar myopathies.
机构信息
Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA.
出版信息
Curr Opin Neurol. 2010 Oct;23(5):477-81. doi: 10.1097/WCO.0b013e32833d38b0.
PURPOSE OF REVIEW
The aim of this communication is to provide an up-to-date overview of myofibrillar myopathies (MFMs).
RECENT FINDINGS
The most important recent advance in the MFMs has been the identification of mutation in Bag3 (Bcl-2-associated athanogene-3) as a new cause of MFM. Although, the typical clinical manifestations of MFMs are slowly progressive weakness, the patients with Bag3opathy may have had a rapidly progressive and more severe phenotype.
SUMMARY
Several MFM disease genes have recently been recognized. The identified disease proteins (desmin, alphaB-crystallin, myotilin, Zasp, filamin C, and Bag3) interact with components or with chaperones of the Z-disk. In each case the molecular defect leads to a largely stereotyped cascade of structural perturbation of the muscle fiber architecture.
综述目的
本交流旨在提供关于肌纤维病（MFMs）的最新概述。
最近的发现
MFMs 最重要的新进展是发现 Bag3（Bcl-2 相关的抗凋亡基因 3）突变是一种新的 MFM 病因。尽管 MFMs 的典型临床表现为进行性肌无力，但 Bag3 病患者可能具有进行性更快和更严重的表型。
总结
最近已经识别出几种肌纤维病疾病基因。已鉴定的疾病蛋白（结蛋白、αB-晶体蛋白、肌球蛋白、Zasp、细丝蛋白 C 和 Bag3）与 Z 盘的成分或伴侣相互作用。在每种情况下，分子缺陷导致肌肉纤维结构的广泛的、定型的结构扰动级联。
Zotero 插件