Novel Mutation in Spectrin-like Repeat 1 of Dystrophin Central Domain Causes Protein Misfolding and Mild Becker Muscular Dystrophy*

Autor: Mohammad El-Baba, Olivier Delalande, William J. Kupsky, Angélique Chéron, Jean-François Hubert, Gyula Acsadi, Steven A. Moore, Lindsey Bennett, Elisabeth Le Rumeur

Publikováno v: Journal of Biological Chemistry
Journal of Biological Chemistry, 2012, 287 (22), pp.18153-62. ⟨10.1074/jbc.M111.284521⟩
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2012, 287 (22), pp.18153-62. ⟨10.1074/jbc.M111.284521⟩

International audience; Mutations in the dystrophin gene without disruption of the reading frame often lead to Becker muscular dystrophy, but a genotype/phenotype correlation is difficult to establish. Amino acid substitutions may disrupt binding cap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efff6cedc4d443cd0407f62a965abe11
https://europepmc.org/articles/PMC3365720/