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Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies
Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family ad...
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| 出版年: | Biomed Res Int |
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| 主要な著者: | , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Hindawi Publishing Corporation
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4830701/ https://ncbi.nlm.nih.gov/pubmed/27123443 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/3128735 |
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