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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 mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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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 2 Sept 2026. Prepared record publication-10999845-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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

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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 ↗

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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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