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The importance of genetic diagnosis for Duchenne muscular dystrophy
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...
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| 出版年: | J Med Genet |
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| 主要な著者: | , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Publishing Group
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4789806/ https://ncbi.nlm.nih.gov/pubmed/26754139 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2015-103387 |
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