Quitterie Blois

P200 - ECE_1716 - Longitudinal clinical and metabolic profile of male patients with LMNA-related lipodystrophy syndromes

Laminopathies are rare disorders caused by variants in the LMNA gene. They display clinical heterogeneity, ranging from frequent forms of partial lipodystrophy (FPLD2) with diabetes to rarer cardiac or muscular forms. A female predominance is observed in FPLD2 due to a phenotype easier to identify with severe met...