Isolated cytochrome c oxidase deficiency as a cause of MELAS.


Deletion of a single nucleotide (7630delT) within MT-CO2, the gene of subunit II of cytochrome c oxidase (COX), was identified in a clinically typical MELAS case. The deletion-induced frameshift results in a stop codon close to the 5' end of the reading frame. The lack of subunit II (COII) precludes the assembly of COX and leads to the degradation of… (More)
DOI: 10.1136/bcr.08.2008.0666


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