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Myofiber Size Correlates with MTM1 Mutation Type and Outcome in X-linked Myotubular Myopathy
We aimed to correlate pathologic findings with MTM1 mutation type in a series of molecularly defined XLMTM cases. Clinical data from 15 XLMTM patients and their corresponding 16 muscle biopsies were studied. All patients were infants (range: 6 to 217 days old) when initially biopsied. The proportion...
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| Main Authors: | , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2007
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2043149/ https://ncbi.nlm.nih.gov/pubmed/17537630 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2007.03.010 |
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