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Article

Neutral lipid storage disease with myopathy: Further phenotypic characterization of a rare PNPLA2 variant.

Neuromuscular disorders : NMD - 1 Jul 2018

Latimer Caitlin S, Schleit Jennifer, Reynolds Adam, Marshall Desiree A, Podemski Benjamin, Wang Leo H, Gonzalez-Cuyar Luis F

Abstract excerpt

Neutral lipid storage disease with myopathy is a rare disorder of lipid metabolism caused by variants in the Patatin-Like Phospholipase Domain Containing 2 (PNPLA2) gene. Diagnosis is often delayed due to variable presentations, which is of concern due to increased risk of cardiomyopathy. Better phenotype-genotype characterization is necessary to improve speed and accuracy of diagnosis. Here, we describe a...

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Source

Identifiers

PMID: 29779757
DOI: 10.1016/j.nmd.2018.04.010

Genes

PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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