International-DMD (IDMD): a PTC Therapeutics-supported diagnostic project to widely identify dystrophin mutations by NGS technologies

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Extensive molecular diagnosis in genetic diseases is vital to confirm clinical diagnosis and to enable genetic counselling and personalized management. Duchenne muscular dystrophy (DMD) is a rare genetic neuromuscular disease affecting 1/5000 males, due to a variety of dystrophin gene mutations. The first signs and symptoms of DMD include delayed milestones such as walking and talking, and enlarged calves. PTC Therapeutics International Ltd. and the University of Ferrara, Italy, have established a collaboration focused on identifying patients affected by rare genetic disorders through increased genetic testing activities, with an initial focus on DMD.

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