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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness and distinctive muscle pathology. It was originally thought that XLMTM was...
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| 出版年: | J Neuropathol Exp Neurol |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4765322/ https://ncbi.nlm.nih.gov/pubmed/26823526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jnen/nlv020 |
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