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Article

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

The Journal of clinical endocrinology and metabolism - 1 Dec 2007

Decaudain Aurélie, Vantyghem Marie-Christine, Guerci Bruno, Hécart Annie-Claude, Auclair Martine, Reznik Yves, Narbonne Hervé, Ducluzeau Pierre-Henri, Donadille Bruno, Lebbé Céleste, Béréziat Véronique, Capeau Jacqueline, Lascols Olivier, Vigouroux Corinne

Abstract excerpt

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 insulin resistance revealed 17 patients with substitutions at codon 482 observed in typical Dunnigan's familial partial...

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Source

Identifiers

PMID: 17711925
DOI: 10.1210/jc.2007-0654

Genes

LMNA

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Related research

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Research trail→

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New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.PMID 17711925Read ↗

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.Semantic proximity Read ↗

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Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family.Semantic proximity Read ↗

A-type lamin-linked lipodystrophies.Semantic proximity Read ↗

Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.Semantic proximity Read ↗

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant.Semantic proximity Read ↗

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.Semantic proximity Read ↗

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.Semantic proximity Read ↗

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.Semantic proximity Read ↗

Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.Semantic proximity Read ↗

A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.Semantic proximity Read ↗

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.Semantic proximity Read ↗

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