Congenital myasthenic syndrome and minicore-like myopathy with DOK7 mutation

Muscle Nerve. 2013 Jul;48(1):151-2. doi: 10.1002/mus.23724. Epub 2013 May 9.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Female
  • Humans
  • Muscle Proteins / genetics*
  • Mutation / genetics*
  • Myasthenic Syndromes, Congenital / diagnosis
  • Myasthenic Syndromes, Congenital / genetics*
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / genetics*
  • Ophthalmoplegia / diagnosis
  • Ophthalmoplegia / genetics*
  • Ryanodine Receptor Calcium Release Channel / deficiency
  • Ryanodine Receptor Calcium Release Channel / genetics

Substances

  • DOK7 protein, human
  • Muscle Proteins
  • Ryanodine Receptor Calcium Release Channel

Supplementary concepts

  • Minicore Myopathy with External Ophthalmoplegia