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

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 capacities of dystrophin and have a major impact on the functionality of this...

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Bibliographische Detailangaben
Hauptverfasser: Acsadi, Gyula, Moore, Steven A., Chéron, Angélique, Delalande, Olivier, Bennett, Lindsey, Kupsky, William, El-Baba, Mohammad, Le Rumeur, Elisabeth, Hubert, Jean-François
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Biochemistry and Molecular Biology 2012
Schlagworte:
Molecular Bases of Disease
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3365720/
https://ncbi.nlm.nih.gov/pubmed/22453924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.284521
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