Article
The myopathy-causing mutation DNM2-S619L leads to defective tubulation in vitro and in developing zebrafish.
Disease models & mechanisms - 1 Jan 2014
Gibbs Elizabeth M, Davidson Ann E, Telfer William R, Feldman Eva L, Dowling James J
Abstract excerpt
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 mutations are unresolved. We examined the common DNM2-S619L mutation using both in vitro and in vivo approaches. Expression...
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