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 LMNA gene. In this study, five FPLD2-diagnosed patients carryi...

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Bibliographic Details
Published in:J Clin Med
Main Authors: Araújo-Vilar, David, Fernández-Pombo, Antía, Victoria, Berta, Mosquera-Orgueira, Adrián, Cobelo-Gómez, Silvia, Castro-Pais, Ana, Hermida-Ameijeiras, Álvaro, Loidi, Lourdes, Sánchez-Iglesias, Sofía
Format: Artigo
Language:Inglês
Published: MDPI 2021
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC8038443/
https://ncbi.nlm.nih.gov/pubmed/33916827
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm10071497
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