Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database.
A recent paper from Elisabeth Rumeur and colleagues (http://www.ojrd.com/content/pdf/1750-1172-7-45.pdf) introduces a new database (http://edystrophin.genouest.org/) that is made freely available for public access. It contains information from 945 clinical reports.
The eDystrophin database compliments two other databases of DMD human mutations: the Leiden Muscular Dystrophy database and the UMD-DMD French database. The eDystrophin database is specifically dedicated to providing information about in-frame mutations (deletions, duplications and substitutions) of the DMD gene and the consequences of these alterations from a clinical perspective and a protein structure perspective.
The database is user friendly and informative and should be a source of much needed information for researchers, parents and patients alike.