Clinicopathological features of the first Asian family having vocal cord and pharyngeal weakness with distal myopathy due to a MATR3 mutation

Neuropathol Appl Neurobiol. 2015 Apr;41(3):391-8. doi: 10.1111/nan.12179.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics*
  • Distal Myopathies / genetics*
  • Female
  • Humans
  • Immunohistochemistry
  • Laryngeal Diseases / genetics*
  • Mutation, Missense*
  • Nuclear Matrix-Associated Proteins / genetics*
  • Pedigree
  • Pharyngeal Diseases / genetics*
  • RNA-Binding Proteins / genetics*

Substances

  • MATR3 protein, human
  • Nuclear Matrix-Associated Proteins
  • RNA-Binding Proteins

Supplementary concepts

  • Myopathy, Distal 2