Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.
Hegele
Robert A
RA
Al-Attar
Salam A
SA
Rutt
Brian K
BK
D005260:Female; D006579:Heterozygote; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D052496:Lipodystrophy, Familial Partial / Q000150:complications / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D017286:Polysomnography; D020181:Sleep Apnea, Obstructive / Q000150:complications*; D012893:Sleep Wake Disorders / Q000209:etiology
C494847:LMNA protein, human; D034904:Lamin Type A