Molecular biology of Duchenne muscular dystrophy |
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| Authors: | R H Brown E P Hoffman |
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| Affiliation: | 1. Department of Neurology & Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX 75390, United States;2. Department of Human Oncology, Memorial Sloan Kattering Cancer Center, New York, NY 10065, United States;3. Neuroimmunology, Biogen, Cambridge, MA 02142, United States;1. Department of Endocrinology and Metabolism, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, Kyoto, Japan;2. Department of Diabetology, Kameoka Municipal Hospital, Kameoka, Japan;3. Department of Diabetes and Endocrinology, Matsushita Memorial Hospital, Moriguchi, Japan;1. Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, United States;2. Marsico Lung Institute/UNC CF Research Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, United States;3. Department of Genome Sciences, University of Washington, Seattle, WA 98195, United States;4. Department of Biological Sciences, North Carolina State University, Raleigh, NC 27695, United States;5. Department of Pediatrics, University of Washington, Seattle, WA 98195, United States;6. Brotman-Baty Institute, Seattle, WA 98195, United States;7. Division of Pediatric Endocrinology and Diabetes, Johns Hopkins University, Baltimore, MD 21287, United States |
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| Abstract: | Duchenne muscular dystrophy (DMD) is the most common inherited human muscle disease and among the most debilitating. In recent investigations the locus of the gene in the Xp21 region of the X chromosome has been defined, the DMD gene has been cloned, and its protein product ‘dystrophin’ has been identified and partially characterized. The analysis of patterns of DMD gene and dystrophin defects in DMD and related disorders has provided insight into the molecular pathogenesis of differing clinical phenotypes of DMD. These studies have also identified two animal models homologous to human DMD. This review outlines these recent studies and their implications for understanding the molecular biology of DMD. |
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