Chloride channel disorder characterized by delayed skeletal muscle relaxation after contraction
Symptoms Hypertrophic skeletal muscles, delayed muscle relaxation, stiff and stilted gait, bunnyhop-type movement, increased respiratory sounds, dental abnormalities, prognathism
Gene involved CLCN1
Mutation tested c.803C>T
Transmission mode : Autosomal recessive
Publication : Bhalerao et al. (2002). Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor.
Gene involved CLCN1
Mutation tested c.2275A>T
Transmission mode : Autosomal recessive
Publication : Quitt et al. (2018). Myotonia congenita in a Labrador Retriever with truncated CLCN1.
Gene involved CLCN1
Mutation tested c.2665insA
Transmission mode : Autosomal recessive
Publication : Finnigan et al. (2007). A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog.