title: Developmental expression of myotilin, a gene mutated in limb-girdle muscular dystrophy type 1A.
abstract: We analyzed developmental expression of myotilin, a novel sarcomeric component mutated in limb-girdle muscular dystrophy 1A (LGMD1A). In situ hybridization and immunostaining of embryonic mouse tissues revealed expression of myotilin initially (E9-10) in heart, somites and neuroepithelium. At E13 myotilin was expressed in a variety of tissues, including the nervous system, lung, liver and kidney, but upon organ differentiation expression became more restricted. The level of expression during early development is comparable between mouse and human, indicating that the mouse may provide a model for further studying the functions of myotilin and the pathogenesis of LGMD1A.
authors.affiliation: Department of Pathology, Haartman Institute, 00014 University of Helsinki, Helsinki, Finland.
authors.forename: L
authors.initials: L
authors.lastname: Mologni
authors.forename: P
authors.initials: P
authors.lastname: Salmikangas
authors.forename: F
authors.initials: F
authors.lastname: Fougerousse
authors.forename: J S
authors.initials: JS
authors.lastname: Beckmann
authors.forename: O
authors.initials: O
authors.lastname: Carpén
mesh_terms: D000818:Animals; D064211:Connectin; D003598:Cytoskeletal Proteins; D004622:Embryo, Mammalian / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry; D017403:In Situ Hybridization; D051379:Mice; D008840:Microfilament Proteins; D009124:Muscle Proteins / Q000096:biosynthesis* / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D014018:Tissue Distribution
chemical_list: D064211:Connectin; D003598:Cytoskeletal Proteins; C577290:MYOT protein, human; D008840:Microfilament Proteins; D009124:Muscle Proteins; C503771:Myot protein, mouse