Endocrine Abstracts

The predominant subtype of familial partial lipodystrophy (FPLD) is a rare autosomal dominant disease occurring in Arginine 482 codon of LMNA gene (FPLD subtype 2, also known as Dunnigan-type lipodystrophy). FPLD may also occur in patients harboring mutations in different exons of LMNA. We herein describe two unrelated patients referred to our Center for the suspicion of partial lipodystrophy and carrying two novel heterozygous LMNA variants. The fir...