Gene involved

Mutation tested
c.1190G>A (CMS)

Transmission mode : Autosomal recessive
Age of onset : Between 1 and 5 months old

Publication : Abitbol et al. (2015). A COLQ missense mutation in Sphynx and Devon Rex cats with congenital myasthenic syndrome.
Gandolfi et al. (2015). COLQ variant associated with Devon Rex and Sphynx feline hereditary myopathy.