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M. Vantyghem

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Open access Aug 2026

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...

Dupuis Hippolyte, Quitterie Blois, M. Vantyghem · 0 citations
Open access Jul 2026

The risk of nephrotic range proteinuria and kidney failure in primary laminopathies is genotype-specific.

BACKGROUND Primary laminopathies are a heterogeneous group of rare diseases caused by nuclear lamina dysfunction due to pathogenic LMNA variants. However, despite their ubiquitous expression, LMNA variants have rarely been linked to chronic kidney disease (CKD). Here, we systematically investigate clinical implications...

Sebastian Sewerin, Charlotte Aurnhammer, Mohamed Hamed et al. · 0 citations

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