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Article

A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.

Archives of neurology - 1 Sept 2012

Ash Daniel B, Papadimitriou Dimitra, Hays Arthur P, Dimauro Salvatore, Hirano Michio

Abstract excerpt

BACKGROUND: Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy. OBJECTIVE: To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2. DESIGN: Case report. SETTING: University hospital. PATIENT: A 65-year-old man with progressive muscle weakness and high serum...

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Source

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Identifiers

PMID: 22964912
DOI: 10.1001/archneurol.2011.2600
PMCID: PMC4961086

Genes

PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.PMID 22964912Read ↗

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Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.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 ↗

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

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Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.Semantic proximity Read ↗

Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblingsSemantic proximity Read ↗

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