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Article

Novel peroxisome proliferator-activated receptor gamma mutation in a family with familial partial lipodystrophy type 3.

Clinical endocrinology - 1 Jan 2016

Miehle Konstanze, Porrmann Joseph, Mitter Diana, Stumvoll Michael, Glaser Christiane, Fasshauer Mathias, Hoffmann Katrin

Abstract excerpt

OBJECTIVE: Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disorder with loss of subcutaneous adipose tissue at the extremities and metabolic complications such as insulin resistance, hypertriglyceridaemia and hypertension. The aim of this study was to characterize the molecular basis of a family of 5 affected members with FPLD3. METHODS: A 61-year-old female index patient and her relatives...

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Share to PPAR gamma
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Lipodystrophy, Familial Partial

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Source

Identifiers

PMID: 26119484
DOI: 10.1111/cen.12837

Genes

PPARG
LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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