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An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361.
Am J Hum Genet. 1999.
PMID: 10205264
Free PMC article.
No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency.
Parfait B, Percheron A, Chretien D, Rustin P, Munnich A, Rötig A.
Parfait B, et al.
Hum Genet. 1997 Dec;101(2):247-50. doi: 10.1007/s004390050625.
Hum Genet. 1997.
PMID: 9402980
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