Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2023 Dec;31(12):1344-1345.
doi: 10.1038/s41431-023-01466-x. Epub 2023 Oct 4.

Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage

Caterina Garone  1   2
Affiliations
Comment

Mitochondrial Cytochrome C deficiency can show the first disease signs in the prenatal stage

Caterina Garone. Eur J Hum Genet. 2023 Dec.
No abstract available

PubMed Disclaimer

Conflict of interest statement

The author declares no competing interests.

Comment on

References

    1. Brischigliaro M, Zeviani M. Cytochrome c oxidase deficiency. Biochim Biophys Acta Bioenerg 1862. 2021;148335:1–22. - PubMed
    1. Ronchi D, Garbellini M, Magri F, Menni F, Meneri M, Bedeschi MF, et al. A biallelic variant in COX18 cause isolated Complex IV deficiency associated with neonatal encephalo-cardio-myopathy and axonal sensory neuropathy. Eur J Hum Genet. 2023. 10.1038/s41431-023-01433-6. - PMC - PubMed
    1. Ferreira CR, Blau N. Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease. Mol Genet Metab. 2021;132:112–8. doi: 10.1016/j.ymgme.2020.12.290. - DOI - PMC - PubMed
    1. Bourens M, Barrientos A. Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module. J Biol Chem. 2017;292:7774–83. doi: 10.1074/jbc.M117.778514. - DOI - PMC - PubMed

Publication types

LinkOut - more resources