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Article

Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

The Journal of clinical endocrinology and metabolism - 1 May 2001

Schmidt H H, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge U J, Pröpsting M, Büttner C, Manns M P, Lochs H, Brabant G

Abstract excerpt

Lipatrophic diabetes, also referred to as familial partial lipodystrophy, is a rare disease that is metabolically characterized by hypertriglyceridemia and insulin resistance. Affected patients typically present with regional loss of body fat and muscular hypertrophic appearance. Variable symptom...

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Share to Apolipoproteins E
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11344241
DOI: 10.1210/jcem.86.5.7500

Genes

LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11344241-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.PMID 11344241Read ↗

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

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

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

Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.Semantic proximity Read ↗

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.Semantic proximity Read ↗

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

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

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

Clinical Characteristics, Phenotype of Lipodystrophy and a Genetic Analysis of Six Diabetic Japanese Women with Familial Partial Lipodystrophy in a Diabetic Outpatient Clinic.Semantic proximity Read ↗

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

Familial partial lipodystrophy syndromes.Semantic proximity Read ↗

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