Myotonia Congenita (Feline) Overview
Myotonia Congenita (Feline)
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Category: Musculoskeletal (Associated with Bones and Muscles)
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive with Incomplete Penetrance
Test Overview: Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1:100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1).
Research Citation(s): PLoS One. 2014 Oct 30;9(10):e109926. doi: 10.1371/journal.pone.0109926. eCollection 2014.
Associated Breed(s): All Breeds (Feline),