Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to R482 and N466 Variants in the LMNA Gene

Patients with Dunnigan disease (FPLD2) with a pathogenic variant affecting exon 8 of the <i>LMNA</i> gene are considered to have the classic disease, whereas those with variants in other exons manifest the “atypical” disease. The aim of this study was to investigate the degree of variabl...

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Bibliographic Details
Main Authors: David Araújo-Vilar, Sofía Sánchez-Iglesias, Ana I. Castro, Silvia Cobelo-Gómez, Álvaro Hermida-Ameijeiras, Gemma Rodríguez-Carnero, Felipe F. Casanueva, Antía Fernández-Pombo
Format: Article
Language:English
Published: MDPI AG 2021-03-01
Series:Journal of Clinical Medicine
Subjects:
lipodystrophy
Dunnigan disease
<i>LMNA</i>
laminopathies
body composition
DXA
Online Access:https://www.mdpi.com/2077-0383/10/6/1259

Internet

https://www.mdpi.com/2077-0383/10/6/1259

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