Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.

  title={Genotype-phenotype correlations in human skeletal muscle sodium channel diseases.},
  author={Reinhardt R{\"u}del and Kenneth Ricker and Frank Lehmann-Horn},
  journal={Archives of neurology},
  volume={50 11},
BACKGROUND Over the past 3 years, the genetics of the myotonic diseases have been substantially elaborated. Three genetically different groups of myotonic disease can be discerned: (1) the chloride channel myotonias, (2) the adynamia-paramyotonia complex, and (3) myotonic dystrophy. METHODS AND RESULTS Electrophysiology has suggested and molecular biology has proven that the diseases belonging to the adynamia-paramyotonia complex, ie, paramyotonia congenita, hyperkalemic and normokalemic… CONTINUE READING
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Hyperkalemic periodic paralysis with hypocalcemia episode

  • ML Dyken, GD Timmons
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