A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism

Donnella S. Green, Lawrence J. Hayward, Alfred L. George, Stephen C. Cannon

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Twenty different point mutations have been identified in the gene coding for the α subunit of the adult skeletal muscle sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium-aggravated myotonias. One novel mutation (Va1781Ile) was reported in an adopted boy with potassium-sensitive weakness and cardiac dysrhythmia. The confidence in establishing this rare amino acid substitution as a causative mutation was limited by the absence of family members for segregation analysis. Functional expression studies herein show that Va1781Ile is most likely a benign polymorphism and not a disease-associated mutation.

Original languageEnglish (US)
Pages (from-to)253-256
Number of pages4
JournalAnnals of Neurology
Volume42
Issue number2
DOIs
StatePublished - Aug 1 1997

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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