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Article

Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency.

Journal of lipid research - 1 Sept 2012

Campeau Philippe M, Astapova Olga, Martins Rebecca, Bergeron Jean, Couture Patrick, Hegele Robert A, Leff Todd, Gagné Claude

Abstract excerpt

Familial partial lipodystrophy (FPLD) is characterized by abnormal fat distribution and a metabolic syndrome with hypertriglyceridemia. We identified a family with a severe form of FPLD3 with never-reported clinical features and a novel mutation affecting the DNA binding domain of PPARγ (E157D). Apart from the lipodystrophy and severe metabolic syndrome, individuals presented musculoskeletal and hematological...

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Identifiers

PMID: 22750678
DOI: 10.1194/jlr.P025437
PMCID: PMC3413236

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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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