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

Missense mutations in the dystrophin protein can cause Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) through an undefined pathomechanism. In vitro studies suggest that missense mutations in the N-terminal actin-binding domain (ABD1) cause protein instability, and cultured myob...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: McCourt, Jackie L, Talsness, Dana M, Lindsay, Angus, Arpke, Robert W, Chatterton, Paul D, Nelson, D’anna M, Chamberlain, Christopher M, Olthoff, John T, Belanto, Joseph J, McCourt, Preston M, Kyba, Michael, Lowe, Dawn A, Ervasti, James M
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886145/
https://ncbi.nlm.nih.gov/pubmed/29194514
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx414
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