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Article

High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.

Clinical genetics - 1 Dec 2010

Lan M-Y, Fu M-H, Liu Y-F, Huang C-C, Chang Y-Y, Liu J-S, Peng C-H, Chen S-S

Abstract excerpt

Lipid storage myopathies (LSMs) are characterized pathologically by the accumulation of lipid droplets in muscle fibers due to impaired cellular lipid metabolism. The purpose of this study was to determine etiologies and genetic mutations associated with LSMs in ethnic Han Taiwanese. The usefulness of the blood acylcarnitine (AC) profile for diagnosing LSMs in adult patients was also investigated. Nine patients...

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Source

Identifiers

PMID: 20370797
DOI: 10.1111/j.1399-0004.2010.01421.x

Genes

ETFDH
MADD
ABHD5
CPT2
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.

Related research

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High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.PMID 20370797Read ↗

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Multiple acyl-coenzyme A dehydrogenase deficiency shows a possible founder effect and is the most frequent cause of lipid storage myopathy in Iran.Semantic proximity Read ↗

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