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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge

Archive ouverte | Mosbah, Héléna | CCSD

International audience. Lipodystrophy syndromes are rare diseases with defects in the development or maintenance of adipose tissue, frequently leading to severe metabolic complications. They may be genetic or acquir...

European lipodystrophy registry: background and structure

Archive ouverte | von Schnurbein, Julia | CCSD

International audience. Abstract 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 dep...

A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies

Archive ouverte | Treiber, Guillaume | CCSD

International audience. Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the diseas...

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