A disease-associated Aifm1 variant induces severe myopathy in knockin mice.

At 3 months of age, Aifm1 (R200 del) animals exhibited a clear trend towards a decreased expression of CI and CIV subunits, which became even more significant at 6 months of age ( Figure 2 G–H).

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While Aifm1 (R200 del) mice showed a trend toward a reduction of mitochondrial CI subunits at 6 months of age, Hq mutant animals presented a marked CI and CIV deficiency at a much younger age, with a clear correlation between CHCHD4 loss and mitochondrial defects in the Hq cerebella ( Figure 3 D–E).

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