Lamin A/C Missense Mutation R216C Pinpoints Overlapping Features Between Brugada Syndrome and Laminopathies

Circ Genom Precis Med. 2020 Apr;13(2):e002751. doi: 10.1161/CIRCGEN.119.002751. Epub 2020 Mar 10.
No abstract available

Keywords: Brugada syndrome; Lamin A/C; translational medical research.

Publication types

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

MeSH terms

  • Adult
  • Brugada Syndrome / genetics*
  • Brugada Syndrome / pathology*
  • Humans
  • Lamin Type A / genetics*
  • Laminopathies / genetics*
  • Laminopathies / pathology*
  • Male
  • Mutation, Missense*
  • Pedigree
  • Prognosis

Substances

  • LMNA protein, human
  • Lamin Type A