Article
Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
Orphanet journal of rare diseases - 9 Jul 2012
Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah Ben, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth
Abstract excerpt
BACKGROUND: Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several exons and cause Duchenne (DMD) and Becker (BMD) muscular dystrophies. The most common DMD mutations are frameshift mutations resulting in an absence of dystrophin...
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