title: The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.
abstract: The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders. Human genetic studies complemented by animal model systems have substantially contributed to our understanding of the molecular pathomechanisms underlying muscle degeneration. Moreover, these studies have revealed distinct molecular and cellular mechanisms that link genetic mutations to diverse muscle wasting phenotypes.
authors.affiliation: Program in Genomics, Division of Genetics, Boston Children's Hospital, and 2 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. frahimov@enders.tch.harvard.edu
authors.forename: Fedik
authors.initials: F
authors.lastname: Rahimov
authors.forename: Louis M
authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D005816:Genetic Complementation Test; D006801:Humans; D018482:Muscle, Skeletal / Q000502:physiology / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D009154:Mutation; D012518:Sarcomeres / Q000378:metabolism; D015398:Signal Transduction