ea0058p037 | Miscellaneous Endocrinology | BSPED2018
Martinez Ana Sastre
, Willemsen Ruben
Introduction: Congenital generalized lipodystrophy (CGL) is a heterogeneous, rare, monogenic condition, characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis, hepatomegaly and impaired lipid metabolism. Four types have been identified, caused by mutations in AGPAT2, BSCL2, CAV1 and, PTRF, respectively. Mutations in PTRF cause CGL type 4, characterized by muscular dystrophy, myopathy, cervical spine instability,...