Article
Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.
International journal of molecular sciences - 11 Feb 2026
Hwang Michael, Worthy Charlita, Cochran Elaine, Startzell Megan, Muniyappa Ranganath, Xing Chao, Garg Abhimanyu, Brown Rebecca J
Abstract excerpt
Genetic lipodystrophies are a heterogeneous group of autosomal dominant and recessive disorders characterized by generalized or partial loss of body fat. Most patients with familial partial lipodystrophy (FPLD) have dominant inheritance with heterozygous pathogenic missense variants in LMNA. Here, we report two females with rare biallelic variants in LMNA presenting with divergent lipodystrophic phenotypes....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.