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Article

Clinical and genetic analysis of lipid storage myopathies.

Muscle & nerve - 1 Mar 2009

Ohkuma Aya, Noguchi Satoru, Sugie Hideo, Malicdan May Christine V, Fukuda Tokiko, Shimazu Kunio, López Luis Carlos, Hirano Michio, Hayashi Yukiko K, Nonaka Ikuya, Nishino Ichizo

Abstract excerpt

Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not been determined. We...

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Source

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Identifiers

PMID: 19208393
DOI: 10.1002/mus.21167
PMCID: PMC10444629

Genes

MADD
PNPLA2
ETFDH
ABHD5
ETFA
ETFB

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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