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‘Double Trouble’: Diagnostic Challenges in Duchenne Muscular Dystrophy in Patients with an Additional Hereditary Skeletal Dysplasia
Duchenne muscular dystrophy (DMD) is caused by mutations Dystrophin and affects 1 in 3600-6000 males. It is characterized by progressive weakness, leading to loss of ambulation, respiratory insufficiency, cardiomyopathy, and scoliosis. We describe the unusual phenotype of 3 patients with skeletal dy...
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| 出版年: | Neuromuscul Disord |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5030769/ https://ncbi.nlm.nih.gov/pubmed/24070816 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2013.08.003 |
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