Lipodystrophies have been recognized since at least the nineteenth century and, despite
their rarity, tended to attract considerable medical attention because of the severity and …

Lipodystrophies are rare, heterogeneous, genetic or acquired, disorders characterised by
varying degrees of body fat loss and associated metabolic complications, including insulin …

Objectives One of the most frequently affected organs in mitochondrial disorders (MIDs),
defined as hereditary diseases due to affection of the mitochondrial energy metabolism, is …

Seipin, a protein encoded by the Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2)
gene, is famous for its key role in the biogenesis of lipid droplets and type 2 congenital …

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare disease characterized by the
near total absence of body fat at birth. BSCL etiology involves genetic variations in four …

Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders
which leads to the impairment of the final common pathway of energy metabolism. Coronary …

Seipin is a nonenzymatic protein encoded by the BSCL2 gene. It is involved in lipodystrophy
and seipinopathy diseases. Named in 2001, all seipin functions are still far from being …

Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare,
monogenic disorders characterized by loss of sub-cutaneous fat, muscular hypertrophy …

Congenital generalized lipodystrophy (CGL) is a genetically heterogeneous group of
disorders characterized by the absence of functional adipose tissue. We identified two …

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two
major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations …