Myotonia Congenita (Feline)

Myotonia Congenita (Feline)

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  • 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).
  • CATEGORY:
    Musculoskeletal - Associated with muscles, bones and associated structures
  • GENE:
    CLCN1
  • VARIANT DETECTED:
  • SEVERITY:
    Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.
  • MODE OF INHERITANCE:
    Autosomal Recessive with Incomplete Penetrance
  • RESEARCH CITATION(S):
    PLoS One. 2014 Oct 30;9(10):e109926. doi: 10.1371/journal.pone.0109926. eCollection 2014.