Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy

Author:

McCourt Jackie L1,Talsness Dana M1,Lindsay Angus2,Arpke Robert W3,Chatterton Paul D1,Nelson D’anna M1,Chamberlain Christopher M1,Olthoff John T1,Belanto Joseph J1,McCourt Preston M1,Kyba Michael3,Lowe Dawn A2,Ervasti James M1

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

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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