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Article

LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.

The Journal of clinical endocrinology and metabolism - 1 Sept 2000

Hegele R A, Cao H, Huff M W, Anderson C M

Abstract excerpt

Mutations in LMNA, which encodes lamins A and C, have been found in patients with autosomal dominant Dunnigan-type familial partial lipodystrophy (FPLD). We analyzed the relationship between plasma leptin and the rare LMNA R482Q mutation in 23 adult FPLD subjects compared with 25 adult family controls with normal LMNA in an extended Canadian FPLD kindred. We found that the LMNA Q482/R482 genotype was a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 10999791
DOI: 10.1210/jcem.85.9.6768

Genes

LMNA

Variants

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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LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.PMID 10999791Read ↗

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