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Article

Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy.

Muscle & nerve - 1 Dec 2007

Akiyama Masashi, Sakai Kaori, Ogawa Masaya, McMillan James R, Sawamura Daisuke, Shimizu Hiroshi

Abstract excerpt

Recently, mutations in PNPLA2 encoding adipose triglyceride lipase (ATGL) were reported to underlie a neutral lipid storage disease (NLSD) subgroup characterized by mild myopathy and the absence of ichthyosis. In the present study a novel homozygous PNPLA2 mutation c.475_478dupCTCC (p.Gln160Profs...

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Source

Identifiers

PMID: 17657808
DOI: 10.1002/mus.20869

Genes

PNPLA2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17657808-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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

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