Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2

Muscle Nerve. 2017 Feb;55(2):E8-E10. doi: 10.1002/mus.25365. Epub 2016 Sep 1.
No abstract available

Keywords: MYH2; cataracts; hybrid fibers; myosin; ophthalmoplegia.

Publication types

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

MeSH terms

  • Homozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / metabolism
  • Muscular Diseases / pathology
  • Mutation
  • Myosin Type II / genetics*
  • Ophthalmoplegia / genetics*

Substances

  • Myosin Type II