Article

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

2020-04-24

Abstract excerpt

Reversible infantile respiratory chain deficiency (RIRCD) is a rare mitochondrial myopathy leading to severe metabolic disturbances in infants, which recover spontaneously after 6 months of age. RIRCD is associated with the homoplasmic m.14674T>C mitochondrial DNA mutation, however only ∼1/100 carriers develop the disease. We studied 27 affected and 15 unaffected individuals from 19 families and found additional h...

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Literature Corpus work: 6c0a8a8a-b235-5d1d-9097-d0ede8e05b35
DOI: 10.1101/2020.04.21.20073759

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