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Article

Symptomatic lipid storage in carriers for the PNPLA2 gene.

European journal of human genetics : EJHG - 1 Aug 2013

Janssen Mirian C H, van Engelen Baziel, Kapusta Livia, Lammens Martin, van Dijk Martin, Fischer Judith, van der Graaf Marinette, Wevers Ron A, Fahrleitner Manuela, Zimmermann Robert, Morava Eva

Abstract excerpt

Neutral lipid storage disease comprises a heterogeneous group of inherited disorders characterized by severe accumulation of cytoplasmic triglyceride droplets in several tissues and neutrophils. A novel type of autosomal recessive lipid myopathy due to PNPLA2 mutations was recently described with associated cardiac disease, myopathy and frequent infections, but without ichthyosis. Here we describe the clinical...

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Source

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Identifiers

PMID: 23232698
DOI: 10.1038/ejhg.2012.256
PMCID: PMC3722672

Genes

PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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