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Article

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

The Journal of clinical endocrinology and metabolism - 1 Nov 2004

Vantyghem M C, Pigny P, Maurage C A, Rouaix-Emery N, Stojkovic T, Cuisset J M, Millaire A, Lascols O, Vermersch P, Wemeau J L, Capeau J, Vigouroux C

Abstract excerpt

Diseases due to mutations in the lamin A/C gene (LMNA) are highly heterogeneous, including neuromuscular and cardiac dystrophies, lipodystrophies, and premature ageing syndromes. In this study we characterized the neuromuscular and cardiac phenotypes of patients bearing the heterozygous LMNA R482W mutation, which is the most frequent genotype associated with the familial partial lipodystrophy of the Dunnigan type...

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Source

Identifiers

PMID: 15531479
DOI: 10.1210/jc.2003-031658

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.PMID 15531479Read ↗

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 ↗

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

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

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

[Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia].Semantic proximity Read ↗

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino‐terminal heterozygous missense lamin A/C mutationsSemantic proximity Read ↗

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

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

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