Article
Unraveling LMNA Mutations in Metabolic Syndrome: Cellular Phenotype and Clinical Pitfalls.
Cells - 28 Jan 2020
Desgrouas Camille, Varlet Alice-Anaïs, Dutour Anne, Galant Damien, Merono Françoise, Bonello-Palot Nathalie, Bourgeois Patrice, Lasbleiz Adèle, Petitjean Cathy, Ancel Patricia, Levy Nicolas, Badens Catherine, Gaborit Bénédicte
Abstract excerpt
This study details the clinical and cellular phenotypes associated with two missense heterozygous mutations in LMNA, c.1745G > T p.(Arg582Leu), and c.1892G> A p.(Gly631Asp), in two patients with early onset of diabetes mellitus, hypertriglyceridemia and non-alcoholic fatty liver disease. In these two patients, subcutaneous adipose tissue was persistent, at least on the abdomen, and the serum leptin level remained...
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