A new study co-funded by Fundación Isabel Gemio Foundation advances our knowledge of a mutation responsible for Duchenne and Becker muscular dystrophies
A Spanish multicentre study, co-funded by Fundación Isabel Gemio has deepened the understanding of the forms of expression of a rare mutation of the dystrophin gene that is responsible for Duchenne and Becker muscular dystrophies. The work suggests that this mutation (deletion of exons 45-55) could be used as a model for gene therapy advantageously compared to other alternatives that are currently in the experimental phase.
The research has been led by Juan Jesús Vílchez, from the Instituto de Investigación Sanitaria La Fe in Valencia, in collaboration with the group led by Pía Gallano from the Hospital San Pau in Barcelona. Numerous hospitals in Spain and research units from the IIS La FE, the University of Valencia and the Autonomous University of Barcelona have also participated.
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