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

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

Human molecular genetics - 1 Jan 2000

Cao H, Hegele R A

Abstract excerpt

Patients with Dunnigan-type familial partial lipodystrophy (FPLD) are born with normal fat distribution, but after puberty experience regional and progressive adipocyte degeneration, often associated with profound insulin resistance and diabetes. Recently, the FPLD gene was mapped to chromosome 1q21-22, which harbours the LMNA gene encoding nuclear lamins A and C. Mutations in LMNA were shown to underlie...

Read the complete abstract on PubMed

Topics

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

Share to Adipocytes
Share to Age Factors
Share to Body Weight

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Canada

Share to Laminin

Share to Lipodystrophy

Share to Mutation, Missense

Source

Identifiers

PMID: 10587585
DOI: 10.1093/hmg/9.1.109

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

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.PMID 10587585Read ↗

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.Semantic proximity Read ↗

Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.Semantic proximity Read ↗

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 LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.Semantic proximity Read ↗

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.Semantic proximity Read ↗

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

Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.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 ↗

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.Semantic proximity Read ↗

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

Nuclear envelope-related lipodystrophies.Semantic proximity Read ↗

New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.Semantic proximity Read ↗

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