Congenital myasthenic syndrome. (CMS) type Ia. Clinical and genetic diversity

Ann N Y Acad Sci. 1998 May 13:841:157-66. doi: 10.1111/j.1749-6632.1998.tb10922.x.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17*
  • Electrodiagnosis
  • Female
  • Genes, Dominant
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Variation
  • Humans
  • Lod Score
  • Male
  • Microsatellite Repeats
  • Middle Aged
  • Myasthenia Gravis / congenital
  • Myasthenia Gravis / genetics*
  • Myasthenia Gravis / physiopathology*
  • Pedigree
  • Receptors, Cholinergic / deficiency
  • Receptors, Cholinergic / genetics
  • Syndrome

Substances

  • Receptors, Cholinergic