Article

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

2024-08-28

Abstract excerpt

Pathogenic variants in cytochrome c oxidase assembly factor 5 (COA5), a proposed complex IV (CIV) assembly factor, have been shown to cause clinical mitochondrial disease with two siblings affected by neonatal hypertrophic cardiomyopathy manifesting a rare, homozygous COA5 missense variant (NM_001008215.3: c.157G>C, p.Ala53Pro). The most striking observation in the affected individuals was an isolated impairment i...

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Literature Corpus work: 6f08529b-899b-53cc-b9dc-8b93a671f981
DOI: 10.1101/2024.08.27.24312374

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