The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish

DNM2 is a ubiquitously expressed GTPase that regulates multiple subcellular processes. Mutations in DNM2 are a common cause of centronuclear myopathy, a severe disorder characterized by altered skeletal muscle structure and function. The precise mechanisms underlying disease-associated DNM2 mutation...

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Bibliographic Details
Main Authors: Gibbs, Elizabeth M., Davidson, Ann E., Telfer, William R., Feldman, Eva L., Dowling, James J.
Format: Artigo
Language:Inglês
Published: The Company of Biologists Limited 2014
Subjects:
Research Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3882057/
https://ncbi.nlm.nih.gov/pubmed/24135484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1242/dmm.012286
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