Φορτώνει......
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
No effective treatment exists for patients with X-linked myotubular myopathy (XLMTM), a fatal congenital muscle disease caused by deficiency of the lipid phosphatase, myotubularin. The Mtm1δ4 and Mtm1 p.R69C mice model severely and moderately symptomatic XLMTM, respectively, due to differences in th...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Oxford University Press
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3605830/ https://ncbi.nlm.nih.gov/pubmed/23307925 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt003 |
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