Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy
Author:
Affiliation:
1. Department of Biochemistry, Molecular Biology and Biophysics
2. Department of Physical Medicine and Rehabilitation
3. Department of Pediatrics University of Minnesota – Twin Cities, Minneapolis, MN 55455, USA
Funder
NIH
National Institute on Aging
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Muscular Dystrophy Association
Publisher
Oxford University Press (OUP)
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine
Link
http://academic.oup.com/hmg/article-pdf/27/3/451/24325824/ddx414.pdf
Reference49 articles.
1. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein;Koenig;Cell,1988
2. Costameres: the Achilles’ heel of Herculean muscle;Ervasti;J. Biol. Chem,2003
3. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin;Rybakova;J. Cell Biol,2000
4. The TREAT-NMD DMD global database: analysis of more than 7, 000 Duchenne muscular dystrophy mutations;Bladen;Hum. Mutat,2015
5. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion;Koenig;Am. J. Hum. Genet,1989
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