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Article

Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

The Journal of clinical endocrinology and metabolism - 1 Sept 2000

Hegele R A, Cao H, Anderson C M, Hramiak I M

Abstract excerpt

We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. We have since sequenced LMNA in five additional Canadian FPLD probands and herein report three new rare missense mutations in LMNA: V440M, R482W, and R584H. One severely affected subject was a compound heterozygote for both V440M and...

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Source

Identifiers

PMID: 10999845
DOI: 10.1210/jcem.85.9.6822

Genes

LMNA

Variants

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.

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Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.PMID 10999845Read ↗

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

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 ↗

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 ↗

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 ↗

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.Semantic proximity Read ↗

Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.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 ↗

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Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation.Semantic proximity Read ↗

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