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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2009-02-01
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| Series: | PLoS Genetics |
| Online Access: | http://europepmc.org/articles/PMC2631153?pdf=render |