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

doi:10.1530/EJE-21-0282

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Article

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

European journal of endocrinology - 27 Aug 2021

Treiber Guillaume, Flaus Furmaniuk Ania, Guilleux Alice, Medjane Samir, Bonfanti Oriane, Schneebeli Stéphane, Bernard Céline, Le-Moullec Nathalie, Bakiri Faouzi, Pholsena Maryse, Rollot Olivier, Vatier Camille, Jarlet Eric, Jéru Isabelle, Lascols Olivier, Darcel Françoise, Domun Bhoopendrasing, Venault Adrien, Venault Sophie, Jacquemont Marie-Line, Doray Berenice, Maiza Jean-Christophe, Cogne Muriel, Vigouroux Corinne, Nobécourt Estelle

Abstract excerpt

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.(Thr655Asnfs*49) variant (n = 65 and 13,...

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PMID: 34292171
DOI: 10.1530/EJE-21-0282

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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