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Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first describ...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2631153/ https://www.ncbi.nlm.nih.gov/pubmed/19197364 http://dx.doi.org/10.1371/journal.pgen.1000372 |