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Article

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

Neuromuscular disorders : NMD - 1 Jul 2014

Kaneko Kimihiko, Kuroda Hiroshi, Izumi Rumiko, Tateyama Maki, Kato Masaaki, Sugimura Koichiro, Sakata Yasuhiko, Ikeda Yoshihiko, Hirano Ken-Ichi, Aoki Masashi

Abstract excerpt

Mutations in PNPLA2 cause neutral lipid storage disease with myopathy (NLSDM) or triglyceride deposit cardiomyovasculopathy (TGCV). We report a 59-year-old patient with NLSDM/TGCV presenting marked asymmetric skeletal myopathy and cardiomyovasculopathy. Skeletal muscle and endomyocardial biopsies showed cytoplasmic vacuoles containing neutral lipid. Gene analysis revealed a novel homozygous mutation (c.576delC)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipase

Share to Lipid Metabolism, Inborn Errors

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Share to Tomography, X-Ray Computed

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Source

Identifiers

PMID: 24836204
DOI: 10.1016/j.nmd.2014.04.001

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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