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Article

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

European journal of endocrinology - 1 Sept 2012

Mory Patricia B, Crispim Felipe, Freire Maria Beatriz S, Salles João Eduardo N, Valério Cynthia M, Godoy-Matos Amelio F, Dib Sérgio A, Moisés Regina S

Abstract excerpt

OBJECTIVE: Mutations in LMNA have been linked to diverse disorders called laminopathies, which display heterogeneous phenotypes and include diseases affecting muscles, axonal neurons, progeroid syndromes, and lipodystrophies. Among the lipodystrophies, LMNA mutations have been reported most frequ...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22700598
DOI: 10.1530/EJE-12-0268

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22700598-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.PMID 22700598Read ↗

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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 ↗

Novel and Ultrarare Heterozygous Missense LMNA Variants Causing Familial Partial Lipodystrophy.Semantic proximity Read ↗

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