Intermediate filament-related myopathies

Abstract 

The dynamic and critical role of intermediate filaments in muscle is highlighted by myopathies characterized by aberrant accumulation of intermediate filaments. In some affected patients, mutations in genes encoding intermediate filaments that are expressed in muscle have been confirmed. The importance of intermediate filaments in muscle is further strengthened by murine models in which genetically designed intermediate filament mutations are expressed, leading to progressive skeletal or cardioskeletal myopathy in affected mice. In this article the intermediate filaments expressed in muscle are reviewed, and the clinical and pathologic features of myopathies known to relate to intermediate filaments are described. With the increasing awareness of intermediate filaments in muscle and the rapid advances in genetic investigation, it is likely that the list of intermediate filament-related myopathies will expand.