Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy

Abstract Background Classical heterozygous pathogenic variants of the lamin A/C (LMNA) gene cause autosomal dominant familial partial lipodystrophy type 2 (FPLD2). However, recent reports indicate phenotypic heterogeneity among carriers of LMNA pathogenic variants, and a few patients have been assoc...

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Bibliographic Details
Main Authors: Utku Erdem Soyaltin, Ilgin Yildirim Simsir, Baris Akinci, Canan Altay, Suleyman Cem Adiyaman, Kristen Lee, Huseyin Onay, Elif Arioglu Oral
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Clinical Diabetes and Endocrinology
Subjects:
Online Access:http://link.springer.com/article/10.1186/s40842-020-00100-9