A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene

Int J Cardiol. 2016 Apr 15:209:317-8. doi: 10.1016/j.ijcard.2016.02.113. Epub 2016 Feb 16.
No abstract available

Keywords: Cardiomyopathy; Genetic testing; Laminopathy; Transplantation.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Bone Diseases, Developmental / complications
  • Bone Diseases, Developmental / diagnosis
  • Bone Diseases, Developmental / genetics*
  • Cardiomyopathy, Dilated / complications
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics*
  • Humans
  • Lamin Type A / genetics*
  • Lipodystrophy / complications
  • Lipodystrophy / diagnosis
  • Lipodystrophy / genetics*
  • Male
  • Mandibular Diseases / complications
  • Mandibular Diseases / diagnosis
  • Mandibular Diseases / genetics*
  • Mutation / genetics*
  • Phenotype*

Substances

  • Lamin Type A