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Article

A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene.

The Journal of international medical research - 1 Nov 2020

Wu Yue, Han Jingzhe, Wang Yaye, Zhang Jinru, Song Xueqin, Ji Guang

Abstract excerpt

We report a family with riboflavin-reactive multiple acyl-CoA dehydrogenase deficiency (RR-MADD) partially caused by a novel mutation in the electron transfer flavoprotein dehydrogenase gene (ETFDH). The RR-MADD family was identified by physical examination, electromyography, and muscle biopsy of the proband. Laboratory examination and electromyography suggested a muscle disease of the lipid storage myopathies....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33131365
DOI: 10.1177/0300060520966499
PMCID: PMC7653293

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