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GENATLAS PHENOTYPE
last update : 04-12-2013
Symbol MCT
Location 7q34
Name myotonia congenita of Thomsen
Other name(s) Thomsen disease
Corresponding gene CLCN1
Other symbol(s) THD
Main clinical features
  • characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction
  • MRI is frequently abnormal in non-dystrophic myotonia providing evidence of fatty infiltration and/or oedema (PMID: 23810313))
    • Genetic determination autosomal dominant
    Related entries including myotonia levior
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name chloride channel,skeletal muscle (CLCN1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     M128V and E193K, showed a large rightward shift in the current-voltage relationship
    Remark(s)
  • mutation enhances the degradation of human CLCN1 chloride channels (PMID: 23424641))