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Published in 2021 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12361
Abstract: Late‐onset multiple acyl‐CoA dehydrogenase deficiency (MADD) is the most common form of lipid storage myopathy. The disease is mainly caused by mutations in electron‐transfer flavoprotein dehydrogenase gene (ETFDH), which leads to decreased levels of ETF:QO…
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Keywords:
mutant etf;
late onset;
dehydrogenase;
degradation mutant ... See more keywords