Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

Neurology. 2003 Sep 23;61(6):826-8. doi: 10.1212/01.wnl.0000085865.55513.ae.

Abstract

Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening crises. The late-onset phenotype developed in adolescence or adulthood and was initially mistaken for seronegative myasthenia gravis. Recognition of this late-onset phenotype should prevent inappropriate immunotherapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Arthrogryposis / genetics
  • Asia / ethnology
  • Child
  • Child, Preschool
  • Codon / genetics
  • Consanguinity
  • DNA Mutational Analysis
  • Europe / ethnology
  • Female
  • Genotype
  • Humans
  • Male
  • Muscle Proteins / genetics*
  • Mutation, Missense*
  • Myasthenia Gravis / classification
  • Myasthenia Gravis / epidemiology
  • Myasthenia Gravis / genetics*
  • Myasthenic Syndromes, Congenital / epidemiology
  • Myasthenic Syndromes, Congenital / genetics
  • Phenotype
  • Point Mutation*

Substances

  • Codon
  • Muscle Proteins
  • peripheral membrane protein 43K