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EMQN best practice guidelines for genetic testing in dystrophinopathies

Fratter C, Dalgleish R, Allen SK, Santos R, Abbs S, Tuffery-Giraud S, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 2020;28(9):1141-59   Abstract Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic […]