Gene involved CHRNE
Mutation tested c.633_634insC
Transmission mode : Autosomal recessive
Publication : Rinz et al. (2015). A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers.
Gene involved COLQ
Mutation tested c.1010T>C
Transmission mode : Autosomal recessive
Publication : Rinz et al, (2014). A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome.
Gene involved COLQ
Mutation tested c.880G>A
Transmission mode : Autosomal recessive
Publication : Tsai et al. (2020). Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation.