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EMQN best practice guidelines for genetic testing in dystrophinopathies

18 May 2020

Abstract excerpt

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 technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been...

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PMID: 32424326
DOI: 10.1038/s41431-020-0643-7

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