Emery-Dreifuss muscular dystrophy type 2: New de novo mutation in the lamin A/C gene

Neurologia (Engl Ed). 2018 Oct;33(8):554-555. doi: 10.1016/j.nrl.2016.05.006. Epub 2016 Jul 22.
[Article in English, Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Muscular Dystrophy, Emery-Dreifuss / diagnosis*
  • Muscular Dystrophy, Emery-Dreifuss / genetics*
  • Mutation

Substances

  • LMNA protein, human
  • Lamin Type A