Résumé :
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UMD-DMD France is a national locus-specific database (LSDB) dedicated to dystrophinopathies. It has been developed through a multi-center academic effort to provide an up-to-date resource of curated information covering all identified and fully validated mutations in patients with dystrophinopathies in France. Whenever necessary, mutations have been reevaluated at the light of the currently available techniques. The database includes 2270 entries corresponding to 2070 independent mutational events identified in either male patients (2034) or symptomatic female carriers (36). These mutations consist in 1420 deletions, 261 duplications, and 449 small rearrangements of which 39.1% are nonsense. Experts in the DMD gene and related diseases are responsible for data quality and accuracy. In addition to gather mutations, the UMD-DMD France includes available data on dystrophin and RNA analysis, phenotypic groups, and transmission. The database aims at further including extensive description of phenotypes associated with the reported mutations to better delineate the clinical spectrum of dystrophinopathies and to allow genotype/phenotype correlations. New tools have been specifically developed in the UMD software to facilitate large-scale mutation analyses of the DMD gene. UMD-DMD will benefit to all the scientific community interested in dystrophinopathies including geneticists, clinicians, and researchers involved in the design of therapeutic strategies. Also it will prove useful to implement forthcoming global registries of patients for clinical trials as ultimate goal within the European Network of Excellence for treatment of neuromuscular disorders (TREAT-NMD). Network of French Laboratories: R. Bernard (Marseille), E Bieth (Toulouse), M. Blayau (Rennes), P Boisseau (Nantes), L Calemard (Lyon), M Cossée (Strasbourg), I Creveau (Clermont-Ferrand), B De Martinville (Lille), A Guiochon (Kremlin Bicêtre), P Khau van Kien (Montpellier). F Leturcq (Cochin), MP Moizard (Tours), N Monnier (Grenoble), C Philippe (Nancy).
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