Loss of Myotubularin Function Results in T-Tubule Disorganization in Zebrafish and Human Myotubular Myopathy

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J. Dowling, James ; P. Vreede, Andrew ; E. Low, Sean ; M. Gibbs, Elizabeth ; Y. Kuwada, John ; G. Bonnemann, Carsten ; Feldman, Eva L.
  • Publisher: Figshare
  • Related identifiers: doi: 10.1371/journal.pgen.1000372
  • Subject: Cell Biology | Genetics | Neuroscience | Developmental Biology | myotubularin | results | t-tubule | disorganization | zebrafish | myotubular | myopathy

<div><p>Myotubularin is a lipid phosphatase implicated in endosomal trafficking <em>in vitro</em>, but with an unknown function <em>in vivo</em>. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no curr... View more
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