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Article

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Nature genetics - 1 Jan 2007

Fischer Judith, Lefèvre Caroline, Morava Eva, Mussini Jean-Marie, Laforêt Pascal, Negre-Salvayre Anne, Lathrop Mark, Salvayre Robert

Abstract excerpt

Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as ATGL). Three of these mutations are predicted...

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Source

Identifiers

PMID: 17187067
DOI: 10.1038/ng1951

Genes

PNPLA2
ABHD5

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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The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.PMID 17187067Read ↗

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Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.Semantic proximity Read ↗

Symptomatic lipid storage in carriers for the PNPLA2 gene.Semantic proximity Read ↗

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.Semantic proximity Read ↗

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: a case report and literature review.Semantic proximity Read ↗

A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles.Semantic proximity Read ↗

The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets.Semantic proximity Read ↗

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Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathySemantic proximity Read ↗

Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: a strikingly low amount of lipase activity may preserve cardiac functionSemantic proximity Read ↗

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