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Article

A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.

The Journal of clinical endocrinology and metabolism - 1 Jul 2006

Morel Chantal F, Thomas Mary Ann, Cao Henian, O'Neil Caroline H, Pickering J Geoffrey, Foulkes William D, Hegele Robert A

Abstract excerpt

CONTEXT: To date, all cases of familial partial lipodystrophy type 2 (FPLD2; Mendelian Inheritance in Man 151660) result from missense mutations in LMNA, which encodes nuclear lamin A/C (Mendelian Inheritance in Man 150330). OBJECTIVE: The objective of the study was to carry out mutational analysis of LMNA in two sisters with a particularly severe FPLD2 phenotype. DESIGN: This was a descriptive case report with...

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Source

Identifiers

PMID: 16636128
DOI: 10.1210/jc.2005-2746

Genes

LMNA

Provenance

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A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.PMID 16636128Read ↗

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

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Case Report: Familial partial lipodystrophy, description of novel and ultrarare variants with distinct phenotypic spectrum.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 ↗

A recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.Semantic proximity Read ↗

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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 ↗

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