טוען...
Large duplication in MTM1 associated with myotubular myopathy
Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation o...
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| Main Authors: | , , , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
2012
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3594803/ https://ncbi.nlm.nih.gov/pubmed/23273872 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.11.010 |
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