Unusual features in a boy with the rapsyn N88K mutation

Neurology. 2006 Dec 26;67(12):2262-3. doi: 10.1212/01.wnl.0000249184.09369.c2.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Diplopia / diagnosis*
  • Diplopia / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Muscle Proteins / genetics*
  • Muscle Weakness / diagnosis*
  • Muscle Weakness / genetics*
  • Mutation

Substances

  • Muscle Proteins
  • peripheral membrane protein 43K