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Article

[A complex case of diabetes due to LMNA mutation].

La Revue de medecine interne - 1 Oct 2017

Ambonville C, Bouldouyre M-A, Laforêt P, Richard P, Benveniste O, Vigouroux C

Abstract excerpt

INTRODUCTION: Laminopathies (diseases related to A/C mutations of lamines) are rare genetic diseases with an extensive phenotypic spectrum, including lipodystrophic syndromes-characterized by a selective loss of adipose tissue-of which the partial Dunnigan family type is the most frequent. CASE REPORT: We report on a 55-year-old woman with diabetes and long-term disabling myalgia. Her cushingoid morphotype,...

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Topics

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Share to Mutation, Missense
Share to Amino Acid Substitution
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Heterozygote

Share to Insulin Resistance

Share to Lamin Type A

Share to Lipodystrophy, Familial Partial

Source

Identifiers

PMID: 28545855
DOI: 10.1016/j.revmed.2017.04.006

Genes

LMNA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[A complex case of diabetes due to LMNA mutation].PMID 28545855Read ↗

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