Article
Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA.
Nephron. Clinical practice - 1 Jan 2013
Thong Kah Mean, Xu Yaoxian, Cook Jackie, Takou Anna, Wagner Bart, Kawar Bisher, Ong Albert C M
Abstract excerpt
BACKGROUND AND AIM: Focal segmental glomerulosclerosis (FSGS) is a common cause of idiopathic nephrotic syndrome in adults (35%). A number of genetic and familial forms of FSGS have been recognized. Here, we report a large pedigree with a pathogenic mutation in LMNA (R349W) in which four members were found to have biopsy-proven FSGS. The LMNA gene codes for lamins A and C, major components of the nuclear lamina...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.