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

Hegele, Robert A.; Al-Attar, Salam A.; Rutt, Brian K.
September 2007
CMAJ: Canadian Medical Association Journal;9/25/2007, Vol. 177 Issue 7, p743
Academic Journal
Case Study
The article presents case studies of two women with sleep apnea. The two patients are said to be a 49 and 46 year old women having lipodystrophy but without history of allergies, cardiovascular disease or respiratory problems. Both patients had the classic familial partial lipodystrophy fat distribution, with no subcutaneous fat in the limbs and gluteal region, and increased facial, neck and central fat stores.


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