Cytochrome‐ <i>c</i> ‐oxidase deficiency in a floppy infant

Abstract

We report an infant with cytochrome-<i>c</i>-oxidase deficiency whose clinical presentation is identical to that of two previously reported patients, including failure to thrive, respiratory decompensation, acidosis, DeToni-Fanconi-Debre syndrome, and mitochondrial myopathy leading to death.