Patients with congenital generalized lipodystrophies
Patients with congenital generalized lipodystrophies
This panel shows a female and a male with CGL types 1 and 2. Type 1 is due to a mutation in the 1-acylglycerol-3-phosphate O-acyltransferase 2 gene. Type 2 is due to a mutation in the seipin gene. Both types are characterized by a generalized lack of fat, extreme muscularity, acanthosis nigricans in the groin and axillae, and acromegaloid features. Patients with CGL2 have a higher prevalence of intellectual impairment and cardiomyopathy than those with CGL1.
CGL: congenital generalized lipodystrophy.
Graphic 78980 Version 7.0
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