Abstract
The intermediate filament proteins (desmin, vimentin, nestin, synemins and paranemin) synthesized by muscle cells depends on the type of muscle and its stage of development. Desmin is present in all muscles at all stages of development. The others appear transiently or in only certain muscles. The muscles of mice lacking desmin and those of human having a mutated desmin gene that encodes a nonfunctional desmin are abnormal. The severity of the human disease depends on the location of the mutation; it may cause skeletal myopathies, cardiomyopathies or altered vascular elasticity. This report summarizes the function of the desmin gene in the skeletal and smooth muscles, the gene regulation and desmin-related myopathies.
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© 2006 Landes Bioscience and Springer Science+Business Media
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Paulin, D., Xue, Z. (2006). Desmin and Other Intermediate Filaments in Normal and Diseased Muscle. In: Intermediate Filaments. Springer, Boston, MA. https://doi.org/10.1007/0-387-33781-4_1
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DOI: https://doi.org/10.1007/0-387-33781-4_1
Publisher Name: Springer, Boston, MA
Print ISBN: 978-0-387-33780-7
Online ISBN: 978-0-387-33781-4
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