title: Muscle function and dysfunction in health and disease.
abstract: Skeletal muscles of the trunk and limbs developmentally originate from the cells of the dermomyotomal compartment of the somite. A wealth of knowledge has been accumulated with regard to understanding the molecular regulation of embryonic skeletal myogenesis. Myogenic induction is controlled through a complex series of spatiotemporal dependent signaling cascades. Secreted signaling molecules from surrounding structures not only initiate the myogenic program, but also influence proliferation and differentiation decisions. The proper coordination of these molecular events is thus critical for the formation of physiologically functional skeletal muscles. Hereditary congenital skeletal muscle defects arise due to genetics lesions in myogenic specific components. Understanding the mechanistic routes of congenital skeletal muscle disease therefore requires a comprehensive knowledge of the developmental system. Ultimately, the application of this knowledge will improve the diagnostic and therapeutic methodologies for such diseases. The aim of this review is to overview our current understanding of skeletal muscle development and associated human congenital diseases.
authors.affiliation: Ottawa Health Research Institute, Molecular Medicine Program, and the Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Huh
authors.forename: Johnathan K
authors.initials: JK
authors.lastname: Smid
authors.forename: Michael A
authors.initials: MA
authors.lastname: Rudnicki
mesh_terms: D000818:Animals; D001485:Basement Membrane / Q000378:metabolism; D004475:Ectoderm / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D008954:Models, Biological; D024510:Muscle Development; D018482:Muscle, Skeletal / Q000166:cytology*; D009132:Muscles / Q000166:cytology* / Q000196:embryology*; D009135:Muscular Diseases / Q000473:pathology; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology; D009142:Musculoskeletal Physiological Phenomena; D018006:Myogenic Regulatory Factors / Q000378:metabolism; D011401:Promoter Regions, Genetic; D012208:Rhabdomyosarcoma / Q000473:pathology; D015398:Signal Transduction; D019170:Somites; D014158:Transcription, Genetic
chemical_list: D018006:Myogenic Regulatory Factors