Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.
Kate L TsaiKaren M VernauKathryn WingerDanielle M ZwuesteBeverly K SturgesMarguerite KnipeD Colette WilliamsKendall J AndersonJacquelyn M EvansLing T GuoLeigh Anne ClarkG Diane SheltonPublished in: Journal of veterinary internal medicine (2019)
We confirmed the diagnosis of a CMS in GR puppies and identified a novel COLQ mutation. The COLQ gene encodes the collagenous tail of acetylcholinesterase, the enzyme responsible for termination of skeletal muscle contraction by clearing acetylcholine at the neuromuscular junction. Clinicians and breeders should be aware of this CMS in GR puppies with an early onset of weakness.