A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome
We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA). We analysed the nuclear morphology and laminar...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Taylor & Francis Group
2019-01-01
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Series: | Adipocyte |
Subjects: | |
Online Access: | http://dx.doi.org/10.1080/21623945.2019.1640007 |