Abstract
Nebulin is an enormous protein of the muscle sarcomere. It is a determinant of thin filament length, Z-disk structure and fiber contractility. The nebulin gene contains four regions of alternative splicing, providing a wealth of different isoforms of the protein. The precise function of these numerous isoforms in various types of muscle tissue remains to be elucidated, as does their role in the maintenance of normal muscle strength and activity. Understanding these basic mechanisms is a prerequisite for the development of specific therapies for the disorders caused by mutations in the nebulin gene. Such mutations are the main cause of autosomal recessive nemaline (rod) myopathy, especially of the typical form of this congenital myopathy. Further known disorders caused by nebulin mutations are several other subcategories of recessively inherited nemaline myopathy and a novel distal myopathy caused by homozygous missense mutations in the nebulin gene. Because of the giant size of the gene, molecular genetic testing methods are difficult to design for routine diagnostic use.
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Pelin, K., Wallgren-Pettersson, C. (2008). Nebulin—A Giant Chameleon. 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_3
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DOI: https://doi.org/10.1007/978-0-387-84847-1_3
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