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ProteomicsMetabolic shift underlies recovery in reversible infantile respiratory chain deficiency
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 carri...
ORGANISM(S): Homo sapiens (Human) 
2020-10-13 | PXD020181 | Pride
Mitochondrial myopathy Digenic inheritance Reversible infantile respiratory chain deficiency Homoplasmic trna mutation 
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