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Article

LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.

Diabetes & metabolism - 1 Jun 2014

Chirico V, Ferraù V, Loddo I, Briuglia S, Amorini M, Salpietro V, Lacquaniti A, Salpietro C, Arrigo T

Abstract excerpt

AIM: This report highlights the metabolic, endocrine and cardiovascular comorbidities in a case of familial partial lipodystrophy (FPLD), and also evaluates the efficacy and safety of metformin therapy. METHODS: Mutational analysis was carried out of the LMNA gene in a teenage girl with an FPLD phenotype. Insulin resistance, sex hormones and metabolic parameters were also evaluated, and echocardiography,...

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Source

Identifiers

PMID: 24485160
DOI: 10.1016/j.diabet.2013.12.008

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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