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Article

A single-base mutation in the peroxisome proliferator-activated receptor gamma4 promoter associated with altered in vitro expression and partial lipodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Nov 2004

Al-Shali Khalid, Cao Henian, Knoers Nine, Hermus Ad R, Tack Cees J, Hegele Robert A

Abstract excerpt

Familial partial lipodystrophy (FPLD) results from coding sequence mutations either in LMNA, encoding nuclear lamin A/C, or in PPARG, encoding peroxisome proliferator-activated receptor gamma (PPARgamma). The LMNA form is called FPLD2 (MIM 151660), and the PPARG form is called FPLD3 (MIM 604367). We now report a 21-yr-old female with FPLD and no coding sequence mutations in either LMNA or PPARG. She was...

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Source

Identifiers

PMID: 15531525
DOI: 10.1210/jc.2004-0280

Genes

PPARG
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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