期刊
JOURNAL OF MEDICAL GENETICS
卷 53, 期 3, 页码 145-151出版社
BMJ PUBLISHING GROUP
DOI: 10.1136/jmedgenet-2015-103387
关键词
Muscle disease; Diagnosis; Genetics
资金
- Medical Research Council [MR/K000608/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10036] Funding Source: researchfish
- MRC [MR/K000608/1] Funding Source: UKRI
- Medical Research Council [MR/K000608/1] Funding Source: Medline
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.
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