Article
The Clinical Characteristics and Potential Molecular Mechanism of LMNA Mutation-Related Lipodystrophy.
Advanced biology - 1 Sept 2023
Xiao Cheng, Liu Jieying, Yang Chunru, Zhai Xiaojun, Liu Peng, Xiao Xinhua, Yu Miao
Abstract excerpt
This study aimed to enhance understanding of LMNA mutation-related lipodystrophy by elucidating genotype-phenotype correlations and potential molecular mechanisms. Clinical data from six patients with LMNA mutation-related lipodystrophy are analyzed, and four distinct LMNA mutations are identified. Associations between mutations and lipodystrophy phenotypes are assessed. Three LMNA mutation plasmids are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
