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

A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics.

Canadian journal of diabetes - 1 Oct 2016

Vouillarmet Julien, Laville Martine

Abstract excerpt

We discuss the case of a 56-year-old woman who presented with diabetes from the age of 24. The diagnosis of familial partial lipodystrophy was made after the discovery of the lamin A/C gene 20 years later. The diagnosis enabled the detection of a severe cardiac rhythm disorder with the need for an implantable defibrillator. This disease is a rare disorder characterized by an altered body fat repartition, cardiac...

Read the complete abstract on PubMed

Topics

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

Share to Body Fat Distribution
Share to Diabetes Complications
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Lamin Type A

Share to Leptin

Share to Lipodystrophy, Familial Partial

Share to Myotonic Dystrophy

Source

Identifiers

PMID: 27026223
DOI: 10.1016/j.jcjd.2015.12.007

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Case of Familial Partial Lipodystrophy: From Clinical Phenotype to Genetics.PMID 27026223Read ↗

Familial partial lipodystrophy syndromes.Semantic proximity Read ↗

Cardiovascular complications of lipodystrophic syndromes - focus on laminopathies.Semantic proximity Read ↗

Lipodystrophy: beyond generalization?Semantic proximity Read ↗

Lipodystrophic syndromes: From diagnosis to treatment.Semantic proximity Read ↗

Cardiac phenotype in familial partial lipodystrophy.Semantic proximity Read ↗

Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.Semantic proximity Read ↗

Comprehensive analysis of morbidity and mortality patterns in familial partial lipodystrophy patients: insights from a population studySemantic proximity Read ↗

Laminopathies: from the heart of the cell to the clinics.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 ↗

[Lipodystrophies].Semantic proximity Read ↗

Clinical review#: Lipodystrophies: genetic and acquired body fat disorders.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 ↗

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