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Article

Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.

CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne - 25 Sept 2007

Hegele Robert A, Al-Attar Salam A, Rutt Brian K

Abstract excerpt

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Topics

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Share to LMNA gene
Share to Heterozygote
Share to Lamin Type A
Share to Lipodystrophy, Familial Partial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Polysomnography

Share to Sleep Apnea, Obstructive

Share to Sleep Wake Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 17893350
DOI: 10.1503/cmaj.070135
PMCID: PMC1976659

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 8 closest

Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation.PMID 17893350Read ↗

Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).Semantic proximity Read ↗

Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease.Semantic proximity Read ↗

Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.Semantic proximity Read ↗

The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.Semantic proximity Read ↗

[Biochemical, hormonal and genetic evaluation of the families of two Brazilian patients with type 2 familial partial lipodystrophy].Semantic proximity Read ↗

Severe loss of adipose tissue in a Vietnamese lipodystrophy patient caused by LMNA p.G465D mutation: a first clinical characterization and two-year follow-up.Semantic proximity Read ↗

A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene.Semantic proximity Read ↗

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.Semantic proximity Read ↗

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