<i>ADCK2</i> Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

Heterozygote pups weighed significantly less at weaning than WT ( Adck2 +/−: 15.84 ± 0.64 g ( n = 10), WT: 18.23 ± 0.35 g (n = 13), p ≤ 0.003) and showed a trend toward greater weight gain with age ( Figure 2 D).

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The altered production and/or clearance of these intermediates may have accounted for the significant accumulation of glucose and glucose-6-phosphate, along with a positive trend toward other glycolytic intermediates.

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