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Article

Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.

Muscle & nerve - 1 Apr 2016

Massa Roberto, Pozzessere Simone, Rastelli Emanuele, Serra Laura, Terracciano Chiara, Gibellini Manuela, Bozzali Marco, Arca Marcello

Abstract excerpt

INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. We report a man with multiorgan neutral lipid storage and unusual multisystem clinical involvement, including cognitive impairment. METHODS: Quantitative brain MRI with voxel-based morphometry and extended neuropsychological assessment were performed. In parallel, the coding...

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Source

Identifiers

PMID: 26600210
DOI: 10.1002/mus.24983

Genes

PNPLA2

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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