Myotonia Congenita (Feline)

Myotonia Congenita (Feline)

¥16,600
  • 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).
  • カテゴリー:
    筋骨格系疾患 - 筋肉や骨、及びその構造に関連する疾患
  • static-content..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.

Myotonia Congenita (Feline)

¥16,600

カート