Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation

CMAJ. 2007 Sep 25;177(7):743-5. doi: 10.1503/cmaj.070135.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Heterozygote
  • Humans
  • Lamin Type A / genetics*
  • Lipodystrophy, Familial Partial / complications
  • Lipodystrophy, Familial Partial / genetics*
  • Middle Aged
  • Mutation
  • Polysomnography
  • Sleep Apnea, Obstructive / complications*
  • Sleep Wake Disorders / etiology

Substances

  • LMNA protein, human
  • Lamin Type A