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References OMIM Gene GeneReviews HGMD HGNC
last update : 21/03/2008
Symbol PMC
Location 17q23.3
Name paramyotonia congenita of von Eulenburg
Other name(s) paralysis periodica paramyotonica
Corresponding gene SCN4A
Other symbol(s) PCE
Main clinical features
  • myotonia, increased by exposure to cold, intermittent flaccid paresis, lability of serum potassium, lack of atrophy or hypertrophy of muscles
  • muscle biopsies revealed considerable myopathic changes with a variety of fine structural alterations
  • Genetic determination autosomal dominant
    Related entries . including potassium-aggravated myotonia, mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia (OMIM : 608390), painful muscle stiffness that was provoked by fasting and oral potassium administration
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name sodium channel, voltage gated (SCN4A)
    Genotype/Phenotype correlations missense mutation N1297K associated to severe non-dystrophic myotonia with a fatal outcome