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Autosomal Recessive Inheritance of Classic Bethlem Myopathy
Mutations in the collagen VI genes (COL6A1, COL6A2, and COL6A3) result in Ullrich congenital muscular dystrophy (UCMD), Bethlem myopathy (BM) or phenotypes intermediate between UCMD and BM. While UCMD can be caused by either recessively or dominantly acting mutations, BM has thus far been described...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2787906/ https://ncbi.nlm.nih.gov/pubmed/19884007 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.09.010 |
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