DOK7 congenital myasthenia may be associated with severe mitral valve insufficiency

J Neurol Sci. 2017 Aug 15:379:217-218. doi: 10.1016/j.jns.2017.06.005. Epub 2017 Jun 7.
No abstract available

Keywords: Cardiac disease; DOK7 congenital myasthenia; Mitral valve disease; Neuromuscular disorders.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Middle Aged
  • Mitral Valve Insufficiency / complications*
  • Mitral Valve Insufficiency / genetics
  • Muscle Proteins / genetics
  • Mutation
  • Myasthenic Syndromes, Congenital / complications*
  • Myasthenic Syndromes, Congenital / genetics
  • Siblings

Substances

  • DOK7 protein, human
  • Muscle Proteins