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

**Authors:** Anna Maria Barile, Cristiana Randazzo, Francesca Di Gaudio, Carola Buscemi, Giuseppina Brunacci, Silvio Buscemi

PMC · DOI: 10.1007/s00592-024-02396-w · Acta Diabetologica · 2024-10-29

## Full-text entities

- **Genes:** LMNA (lamin A/C) [NCBI Gene 4000] {aka CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL}
- **Diseases:** familial partial lipodystrophy (MESH:D052496)
- **Mutations:** p.Arg582Leu

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Source: https://tomesphere.com/paper/PMC11861426