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Article

Novel MFN2 compound heterozygote genotype in a patient with multiple symmetric lipomatosis and metabolic dysfunction.

Journal of clinical lipidology - 1 Jun 2026

Lefebvre Fabio Alexis, Paquette Martine, Baass Alexis

Abstract excerpt

Inherited lipodystrophy syndromes are rare disorders of energy metabolism. Patients exhibit adipose tissue atrophy with metabolic dysregulation linked to ectopic fat deposition. Here, we describe the case of a 67-year-old woman presenting with partial adipose tissue atrophy, multiple symmetric lipomatosis, and muscle pseudohypertrophy. Metabolically, she had long-lasting diabetes mellitus with severe insulin...

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Identifiers

PMID: 41991472
DOI: 10.1016/j.jacl.2026.03.020

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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