title: Nebulin--a giant chameleon.
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 byhomozygous 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.
authors.affiliation: Department of Biological and Environmental Sciences, Division of Genetics, University of Helsinki, Helsinki, Finland. katarina.pelin@helsinki.fi
authors.forename: Katarina
authors.initials: K
authors.lastname: Pelin
authors.forename: Carina
authors.initials: C
authors.lastname: Wallgren-Pettersson
mesh_terms: D001706:Biopsy; D025063:Chromosome Disorders / Q000235:genetics; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism*; D009154:Mutation / Q000235:genetics; D017696:Myopathies, Nemaline / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000601:surgery; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: D009124:Muscle Proteins; C035620:nebulin