Miniature Schnauzer

MC - Myotonia Congenita

Muscle fiber hyperexcitability

Description: Defect in chloride ion channels of the skeletal muscles

Symptoms : Hypertrophic skeletal muscles, delayed muscle relaxation, stiff and stilted gait, bunnyhop-type movement, increased respiratory sounds, dental abnormalities, prognathism

Age of onset : From a few weeks old

Frequency : 21,5% carriers

Gene involved : CLCN1

Tested mutation : c.803C>T

Transmission : Autosomal Recessive

Patent : -

Notes :

PrintSend to a friendTweet WidgetPartager sur Facebook