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...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-07-01
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Series: | Clinical Diabetes and Endocrinology |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s40842-020-00100-9 |