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Article

Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.

American journal of medical genetics. Part A - 1 Jan 2017

Zolotov Sagit, Xing Chao, Mahamid Riad, Shalata Adel, Sheikh-Ahmad Mohammed, Garg Abhimanyu

Abstract excerpt

Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old...

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Identifiers

PMID: 27862896
DOI: 10.1002/ajmg.a.37880
PMCID: PMC5788284

Genes

LIPE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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