Ontology highlight
ABSTRACT:
SUBMITTER: Boyer JG
PROVIDER: S-EPMC4103674 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Boyer Justin G JG Deguise Marc-Olivier MO Murray Lyndsay M LM Yazdani Armin A De Repentigny Yves Y Boudreau-Larivière Céline C Kothary Rashmi R
Human molecular genetics 20140401 16
Mutations in the survival motor neuron (SMN1) gene lead to the neuromuscular disease spinal muscular atrophy (SMA). Although SMA is primarily considered as a motor neuron disease, the importance of muscle defects in its pathogenesis has not been fully examined. We use both primary cell culture and two different SMA model mice to demonstrate that reduced levels of Smn lead to a profound disruption in the expression of myogenic genes. This disruption was associated with a decrease in myofiber size ...[more]