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Mouse Models for Thin Filament Disease

  • Mai-Anh T. Nguyen
  • Edna C. Hardeman
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 642)

Abstract

Thin filament integrity is important for the ordered structure and function of skeletal muscles. Mutations within genes that encode thin filament and thin filament-associated proteins can cause muscle disruption, fiber atrophy and alter fiber type composition, leading to muscle weakness. Analyses of patient biopsy samples and tissue culture systems provide rapid methods for studying disease-causing mutations. However, there are limitations to these techniques. Although time consuming, many laboratories are generating and utilizing animal models, in particular the mouse, to study the disease process of various myopathies. This chapter reviews the use of mouse models for thin filament diseases of skeletal muscle and in particular, concentrates on what has been achieved through the generation and characterization of transgenic and knock-in mouse models for the congenital thin filament disease nemaline myopathy. We will review potential therapies that have been trialled on the nemaline models, providing indications for future directions for the treatment of nemaline myopathy patients and muscle weakness in general.

Keywords

Skeletal Muscle Muscle Weakness Nemaline Myopathy Distal Myopathy Familial Hypertrophic Cardiomyopathy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2008

Authors and Affiliations

  1. 1.Muscle Development UnitChildren’s Medical Research InstituteWentworthville
  2. 2.Department of MedicineUniversity of SydneySydneyAustralia
  3. 3.Faculty of MedicineUniversity of SydneySydneyAustralia

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