New Metabolic Phenotypes in Laminopathies:<i>LMNA</i>Mutations in Patients with Severe Metabolic Syndrome

Decaudain, Aurélie; Vantyghem, Marie‐Christine; Guerci, Bruno; Hécart, A.C.; Auclair, Martine; Reznik, Yves; Narbonne, H; Ducluzeau, Pierre‐Henri; Donadille, Bruno; Lebbé, Célèste; Béréziat, Véronique; Capeau, Jacqueline; Lascols, Olivier; Vigouroux, Corinne

doi:10.1210/jc.2007-0654

Public

New Metabolic Phenotypes in Laminopathies:LMNAMutations in Patients with Severe Metabolic Syndrome

Published in The Journal of Clinical Endocrinology & Metabolism • Aug 22, 2007

Authors:

Aurélie Decaudain

Marie‐Christine Vantyghem

Bruno Guerci

Abstract

CONTEXT: Mutations in the LMNA gene are responsible for several laminopathies, including lipodystrophies, with complex genotype/phenotype relationships. OBJECTIVE, DESIGN, SETTING, AND PATIENTS: Sequencing of the LMNA coding regions in 277 unrelated adults investigated for lipodystrophy and/or insul...

Subject

LMNA

Lipodystrophy

Genetics

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