Duchenne and Becker muscular dystrophy
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Duchenne and Becker muscular dystrophy에 대한 자료입니다.
목차
1.History and disease

2.Protein

3.Gene

4.DMD & BMD

5.Animal model & Research

6.Therapy
본문내용
History

The first historical account of MD was reported by Conte and Gioja in 1836

Guillaume Duchenne - first case of MD.

Professor Becker - a less severe form of muscular dystrophy in 1955


What is Muscular Dystrophy? (MD)
Muscular Dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system

The main cause : the muscle tissue's cytoskeletal impairment to properly create the functional protein dystrophin

MUSCULAR DYSTROPHY CHARACTERISTICS

1. Genetic, i.e. heritable (even if there are no other cases in family).

2. It is primary myopathy (as defined by clinical, histologic, and EMG criteria).

3. No histologic abnormalities other than degeneration and regeneration of muscle fibers + reaction to those changes (infiltration by fat and connective tissue); no abnormal storage of metabolic products.

4. All symptoms are effects of striated muscle weakness (heart and visceral muscles may also be involved).

5. Weakness becomes progressively worse (i.e. not static – vs. congenital myopathies, metabolic myopathies).


참고문헌
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy- Fiona LM Norwood1†, Andrew J Sutherland-Smith1†*, Nicholas H Keep1,2 and John Kendrick-Jones1
Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle - DEREK J. BLAKE, ANDREW WEIR, SARAH E. NEWEY, AND KAY E. DAVIES Medical Research Council, Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford, United Kingdom
The natural history of Duchenne muscular dystrophy.Analysis of data from a Dutch survey and review of age related events - Anthonie J. van Essen1, Joke B.G.M. Verheij1, Jennita Reefhuis1, Vaclav Fidler2, Jacobus H. Begeer3, Marianne de Visser4, Leo P. ten Kate5
Blau, H. M., Webster, C., Pavlath, G. K.Defective myoblasts identified in Duchenne muscular dystrophy.Proc. Nat. Acad. Sci. 80: 4856-4860, 1983. [PubMed: 6576361, related citations] [Full Text: HighWire Press
Duchenne Muscular Dystrophy-Marek Michalak, University of Alberta, Edmonton, Alberta, Canada Michal Opas, University of Toronto, Toronto, Ontario, Canada
Borresen, A. L., Heiberg, A., Moller, P., Berg, K.Evidence for a sperm mutation resulting in Duchenne muscular dystrophy.Clin. Genet. 32: 187-191, 1987. [PubMed: 2887319, related citations]
Genetic linkage relationships between the Xg blood group systemand two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy - M. Sarfarazi 1, P. S. Harper 1, H. M. Kingston 1, J. M. Murray 1' 2, T. O'Brien 1, K. E. Davies 2, R. Williamson 2, P. Tippett 3, and R. Sanger 3
Lovering RM, De Deyne PG. Contractile function, sarcolemmaintegrity, and the loss of dystrophin after skeletal muscle eccentriccontraction-induced injury. Am J Physiol Cell Physiol. 2004;286:C230–C238.
Duchenne G. L’Electrisation Localisee at de son Application a la Pathologieat a la Therapeutique. Paris, France: Bailliere et Fils; 1861.
McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases: Duchenne muscular dystrophy. Am J Phys Med Rehabil.1995;74:S70 –S92.
Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne musculardystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475– 481.
Roland EH. Muscular dystrophy. Pediatr Rev. 2000;21:233–237.
Metules T. Duchenne muscular dystrophy. RN. 2002;65:39–44, 47.
Biggar WD, Gingras M, Fehlings DL, et al. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr. 2001;138:45–50.
The Muscular Dystrophies: From Genes to Therapies Richard M Lovering, Neil C Porter and Robert J Bloch PHYS THER. 2005; 85:1372-1388.
Bucher, K., Ionasescu, V., Hanson, J.Frequency of new mutants among boys with Duchenne muscular dystrophy.Am. J. Med. Genet. 7: 27-34, 1980. [PubMed: 7211951, related citations]
PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy-Makoto Uchino a, * , Makoto Tokunaga a, Shuji Mita a, Eiichiro Uyama a, Yukio Ando a, Hitoh Teramoto b, Teruhisa Miike ‘, Masayuki Ando a
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