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When ADH5 expression is reduced in certain organs and cell types in individuals with dominant-negative ALDH2*2 alleles, the ability to metabolize endogenous formaldehyde may be significantly reduced, possibly resulting in endogenous formaldehyde accumulation

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31, 32 When a conclusive mtDNA abnormality could not be identified, nuclear mitochondrial gene testing and/or a muscle and/or skin biopsy was recommended