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: Elizabeth M. Gibbs, Ann E. Davidson, William R. Telfer, Eva L. Feldman, James J. Dowling
Format: Article
Language:English
Published: The Company of Biologists 2014-01-01
Series:Disease Models & Mechanisms
Subjects:
Online Access:http://dmm.biologists.org/content/7/1/157