Unraveling <i>LMNA</i> Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

Unraveling <i>LMNA</i> Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls

This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in <i>LMNA</i>, c.1745G&gt;T p.(Arg582Leu), and c.1892G&gt;A p.(Gly631Asp), in two patients with early onset of diabetes mellitus, hypertriglyceridemia and non-alcoholic fa...

Full description

Bibliographic Details
Main Authors: Camille Desgrouas, Alice-Anaïs Varlet, Anne Dutour, Damien Galant, Françoise Merono, Nathalie Bonello-Palot, Patrice Bourgeois, Adèle Lasbleiz, Cathy Petitjean, Patricia Ancel, Nicolas Levy, Catherine Badens, Bénédicte Gaborit
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Cells
Subjects:
dyslipidemia
metabolic syndrome
insulin resistance
lamin a/c
nuclear anomalies and premature senescence
Online Access:https://www.mdpi.com/2073-4409/9/2/310

Internet

https://www.mdpi.com/2073-4409/9/2/310

Similar Items