ESPE Abstracts

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...

Background: Lipodystrophy syndromes comprise a group of extremely rare and heterogeneous diseases characterized by a selective loss of adipose tissue in the absence of nutritional deprivation or catabolic state. Because of the rarity of each lipodystrophy sub-form, research in this area requires international co-operation. Therefore, in 2016, the European Consortium of Lipodystrophies (ECLip) decided to create a registry for patients affected by lipodystrophy....