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The Sarcomere and Skeletal Muscle Disease pp 66–77Cite as

Mouse Models for Thin Filament Disease

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Part of the book series: Advances in Experimental Medicine and Biology ((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.

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Authors and Affiliations

  1. Muscle Development Unit, Children’s Medical Research Institute, Locked Bag 23, Wentworthville, NSW, 2145

    Mai-Anh T. Nguyen & Edna C. Hardeman

  2. Department of Medicine, University of Sydney, Sydney, Australia

    Edna C. Hardeman

  3. Faculty of Medicine, University of Sydney, Edward Ford Building (A27), Sydney, NSW, 2006, Australia

    Edna C. Hardeman

Authors
  1. Mai-Anh T. Nguyen
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  2. Edna C. Hardeman
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Correspondence to Edna C. Hardeman .

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Editors and Affiliations

  1. Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Western Australia, Australia

    Nigel G. Laing PhD

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© 2008 Landes Bioscience and Springer Science+Business Media

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Nguyen, MA.T., Hardeman, E.C. (2008). Mouse Models for Thin Filament Disease. In: Laing, N.G. (eds) The Sarcomere and Skeletal Muscle Disease. Advances in Experimental Medicine and Biology, vol 642. Springer, New York, NY. https://doi.org/10.1007/978-0-387-84847-1_6

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