Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian Paramyotonia Congenita (PC) family

V. Sansone, G. Rotondo, L. J. Ptacek, G. Meola

Research output: Contribution to journalArticle

Abstract

The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in extracellular K+ levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, Hypo PP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in Italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.

Original languageEnglish
Pages (from-to)473-480
Number of pages8
JournalItalian Journal of Neurological Sciences
Volume15
Issue number9
DOIs
Publication statusPublished - Sep 1994

Keywords

  • mexiletine
  • mutation
  • myotonia
  • paramyotonia congenita
  • sodium channel

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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