Less than 300 cases are reported to date and mutations in several loci are found of which the most relevant are AGPAT2 in congenital generalized lipodystrophy type 1 (omim #608594), seipin in congenital generalized lipodystrophy type 2 (BSCL2) (omim #269700), caveolin 1 in congenital generalized lipodystrophy type 3 (omim #612526), and PTRF in congenital generalized lipodystrophy type 4 (omim #613327) [46]. The gene discussed is BSCL2; the disease is Generalized congenital lipodystrophy with myopathy.