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Article

Distal lipid storage myopathy due to PNPLA2 mutation.

Neuromuscular disorders : NMD - 1 Aug 2008

Ohkuma Aya, Nonaka Ikuya, Malicdan May Christine V, Noguchi Satoru, Ohji Satoru, Nomura Kyoichi, Sugie Hideo, Hayashi Yukiko K, Nishino Ichizo

Abstract excerpt

Distal myopathy is a group of heterogeneous disorders affecting predominantly distal muscles usually appearing from young to late adulthood with very rare cardiac complications. We report a 27-year-old man characterized clinically by distal myopathy and dilated cardiomyopathy, pathologically by l...

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Topics

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Share to Atrophy
Share to Cardiomyopathy, Dilated
Share to Distal Myopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Lipase

Share to Muscle Fibers, Skeletal

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Source

Identifiers

PMID: 18657972
DOI: 10.1016/j.nmd.2008.06.382

Genes

PNPLA2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18657972-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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