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Scientific Articles

The importance of genetic diagnosis for Duchenne muscular dystrophy

key information

source: Journal Of Medical Genetics

year: 2016

authors: Aartsma-Rus A, Ginjaar IB, Bushby K


Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.

organization: Newcastle University, UK; Leiden University Medical Center, The Netherlands

DOI: 10.1136/jmedgenet-2015-103387

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