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Rather, age-related premutational lesions may have occurred in these cells that are converted to the authentic mutation (most commonly a glycine to arginine substitution at codon 1,138) following fertilization, as a consequence of aberrant DNA repair in the zygote [5, 6]
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Similar to the metabolic consequences of SDH and FH mutations, mutations in the IDH enzyme also result in dysfunction of the TCA cycle
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