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Article

A myopathy with unusual features caused by PNPLA2 gene mutations.

Muscle & nerve - 1 Apr 2015

Pennisi Elena M, Missaglia Sara, Dimauro Salvatore, Bernardi Cinzia, Akman Hasan Orhan, Tavian Daniela

Abstract excerpt

INTRODUCTION: The PNPLA2 gene encodes the enzyme adipose triglyceride lipase (ATGL), which catalyzes the first step of triglyceride hydrolysis. Mutations in this gene are associated with an autosomal recessive lipid-storage myopathy, neutral lipid-storage disease with myopathy (NLSD-M). RESULTS: A 72-year-old woman had late-onset myopathy, with mild weakness, cramps, and exercise intolerance. Electromyography...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25287355
DOI: 10.1002/mus.24477

Genes

PNPLA2

Variants

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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A myopathy with unusual features caused by PNPLA2 gene mutations.PMID 25287355Read ↗

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