A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.

Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine, and causative mutations have only been i...

Full description

Bibliographic Details
Main Authors: Caitlin J Rinz, Jonathan Levine, Katie M Minor, Hammon D Humphries, Renee Lara, Alison N Starr-Moss, Ling T Guo, D Colette Williams, G Diane Shelton, Leigh Anne Clark
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4148433?pdf=render