Publications by authors named "Adrien Venault"
A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Guillaume Treiber Ania Flaus Furmaniuk Alice Guilleux Samir Medjane Oriane Bonfanti Adrien Venault Sophie Venault
Eur J Endocrinol
August 2021
Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the disease phenotype in a cohort of patients carrying an LMNA founder variant.
Methods: We collected clinical and biological data from patients carrying the monoallelic or biallelic LMNA p.