Myofibrillar myopathies.
Myofibrillar myopathies.
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DOI：
10.1016/j.nmd.2010.12.007
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发表时间：
2011-03
影响因子：
2.8
通讯作者：
Selcen, Duygu
中科院分区：
文献类型：
--
作者：
Selcen, Duygu
肌原纤维肌病代表一组具有相似形态表型的肌营养不良症。它们的特征是与 Z 盘解体相关的肌原纤维溶解的独特病理模式、肌原纤维降解产物的积累以及多种蛋白质和有时嗜刚果红物质的异位表达。肌原纤维肌病的临床特征更加多样。这些包括进行性肌肉无力，通常涉及或始于远端肌肉，但也可能发生肢带或肩胛骨分布。心肌病和周围神经病是常见的相关特征。受影响肌肉的肌电图显示肌病性运动单位电位和异常烦躁，通常伴有肌强直放电。很少出现神经源性运动单位电位或神经传导缓慢。肌原纤维肌病的一般诊断基于冰冻切片的肌肉活检结果。迄今为止，所有肌原纤维肌病突变都可追溯到 Z 盘相关蛋白，即结蛋白、αB-晶状体蛋白、肌肌蛋白、ZASP、细丝蛋白 C 和 Bag3。然而，在大多数肌原纤维肌病患者中，疾病基因有待发现。
Myofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype. They are characterized by a distinct pathologic pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins and sometimes congophilic material. The clinical features of myofibrillar myopathies are more variable. These include progressive muscle weakness, that often involves or begins in distal muscles but limb-girdle or scapuloperoneal distributions can also occur. Cardiomyopathy and peripheral neuropathy are frequent associated features. EMG of the affected muscles reveals myopathic motor unit potentials and abnormal irritability often with myotonic discharges. Rarely, neurogenic motor unit potentials or slow nerve conductions are present. The generic diagnosis of myofibrillar myopathies is based on muscle biopsy findings in frozen sections. To date, all myofibrillar myopathy mutations have been traced to Z-disk associated proteins, namely, desmin, αB-crystallin, myotilin, ZASP, filamin C and Bag3. However, in the majority of the myofibrillar myopathy patients the disease gene awaits discovery.
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影响因子：
9.9
作者：
GILCHRIST, JM;PERICAKVANCE, M;ROSES, AD
通讯作者：
ROSES, AD
影响因子：
11.2
作者：
Del Bigio, Marc R.;Chudley, Albert E.;Selcen, Duygu
通讯作者：
Selcen, Duygu
影响因子：
5.6
作者：
Haley, DA;Horwitz, J;Stewart, PL
通讯作者：
Stewart, PL
DOI：
10.1073/pnas.96.11.6137
发表时间：
1999-05-25
影响因子：
11.1
作者：
Bova, MP;Yaron, O;Horwitz, J
通讯作者：
Horwitz, J
影响因子：
2.8
作者：
Claeys, K. G.;Fardeau, M.;Stoltenburg, G.
通讯作者：
Stoltenburg, G.