Myotonia Congenita

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  Subject Areas on Research

  • Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita. 
  • Functional repair of a mutant chloride channel using a trans-splicing ribozyme. 
  • Muscle sodium channel inactivation defect in paramyotonia congenita with the thr1313met mutation. 
  • Myotonia congenita with painful muscle contractions. 
  • Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane. 
  • Specificity of biochemical and biophysical tests in Duchenne and myotonic muscular dystrophy, carrier states, and congenital myotonia. 
  • Spin label study of erythrocyte membrane fluidity in myotonic and Duchenne muscular dystrophy and congenital myotonia. 
  • Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy. 
  • Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. 
  • Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.