Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

Variable Expressivity and Allelic Heterogeneity in Type 2 Familial Partial Lipodystrophy: The p.(Thr528Met) LMNA Variant

Type 2 familial partial lipodystrophy, or Dunnigan disease, is a metabolic disorder characterized by abnormal subcutaneous adipose tissue distribution. This rare condition results from variants principally affecting exons 8 and 11 of the <i>LMNA</i> gene. In this study, five FPLD2-diagno...

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Bibliographic Details
Main Authors: David Araújo-Vilar, Antía Fernández-Pombo, Berta Victoria-Martínez, Adrián Mosquera-Orgueira, Silvia Cobelo-Gómez, Ana Castro-Pais, Álvaro Hermida-Ameijeiras, Lourdes Loidi, Sofía Sánchez-Iglesias
Format: Article
Language:English
Published: MDPI AG 2021-04-01
Series:Journal of Clinical Medicine
Subjects:
type 2 familial partial lipodystrophy
FPLD2
<i>LMNA</i>
T528M
Online Access:https://www.mdpi.com/2077-0383/10/7/1497

Internet

https://www.mdpi.com/2077-0383/10/7/1497

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