Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

LMNA-associated partial lipodystrophy: anticipation of metabolic complications.

Journal of medical genetics - 1 Jun 2017

Jeru Isabelle, Vatier Camille, Vantyghem Marie-Christine, Lascols Olivier, Vigouroux Corinne

Abstract excerpt

BACKGROUND: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. METHODS: This retrospective study of the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Body Mass Index
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypertriglyceridemia

Share to Lamin Type A

Share to Lipodystrophy

Share to Lipodystrophy, Familial Partial

Share to Phenotype

Source

Identifiers

PMID: 28408391
DOI: 10.1136/jmedgenet-2016-104437

Genes

LMNA

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

LMNA-associated partial lipodystrophy: anticipation of metabolic complications.PMID 28408391Read ↗

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 ↗

A Rare Mutation in LMNB2 Associated with Lipodystrophy Drives Premature Cell Senescence.Semantic proximity Read ↗

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.Semantic proximity Read ↗

Familial partial lipodystrophy type 2 associated with a novel LMNA variant (c.604G>C; p.Glu202Gln): a Colombian family case series.Semantic proximity Read ↗

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

Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants in LMNA.Semantic proximity Read ↗

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

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

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.Semantic proximity Read ↗

Advances in lipodystrophy syndrome caused by LMNA gene mutation.Semantic proximity Read ↗

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

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.