Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant

Acta Diabetol. 2024 Oct 29. doi: 10.1007/s00592-024-02396-w. Online ahead of print.

Anna Maria Barile^#^{1

2}, Cristiana Randazzo^#^{1

2}, Francesca Di Gaudio^{1

3}, Carola Buscemi¹, Giuseppina Brunacci³, Silvio Buscemi^{4

5}

¹ Dipartimento Di Promozione Della Salute, Materno-Infantile, Medicina Interna E Specialistica Di Eccellenza (PROMISE), University of Palermo, Piazza Delle Cliniche, 2-90127, Palermo, Italy.
² Unit of Clinical Nutrition, Obesity and Metabolic Diseases, AOU Policlinico "P. Giaccone", Palermo, Italy.
³ Unit of Chromatography and Mass Spectrometry Section, Quality Control and Chemical Risk (CQRC), Villa Sofia-Cervello Hospital, Palermo, Italy.
⁴ Dipartimento Di Promozione Della Salute, Materno-Infantile, Medicina Interna E Specialistica Di Eccellenza (PROMISE), University of Palermo, Piazza Delle Cliniche, 2-90127, Palermo, Italy. silvio.buscemi@unipa.it.
⁵ Unit of Clinical Nutrition, Obesity and Metabolic Diseases, AOU Policlinico "P. Giaccone", Palermo, Italy. silvio.buscemi@unipa.it.

^# Contributed equally.

No abstract available

Keywords: Adiposopathy; Dunnigan syndrome; Insulin resistance; Lipodystrophy.