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...

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Detalles Bibliográficos
Autores principales: Dowling, James J., Vreede, Andrew P., Low, Sean E., Gibbs, Elizabeth M., Kuwada, John Y., Bonnemann, Carsten G., Feldman, Eva L.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Research Article
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

Internet

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

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