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
. 2020 Oct 15:417:116950.
doi: 10.1016/j.jns.2020.116950. Epub 2020 May 29.

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

Charlotte L Alston  1 , Emma L Blakely  2 , Robert McFarland  3 , Robert W Taylor  3
Affiliations
Comment

The m.15043G > A MT-CYB variant is not a pathogenic mtDNA variant

Charlotte L Alston et al. J Neurol Sci. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Declaration of Competing Interest There are no conflicts of interest.

Comment in

  • Pathogenicity of the m.15043G>A variant.
    Ghosh R, Dubey S, Chatterjee S, Finsterer J, Biswas R, Lahiri D, Ray BK. Ghosh R, et al. J Neurol Sci. 2020 Oct 15;417:116947. doi: 10.1016/j.jns.2020.116947. Epub 2020 May 29. J Neurol Sci. 2020. PMID: 32507345 No abstract available.

Comment on

References

    1. Alston C.L., Rocha M.C., Lax N.Z., Turnbull D.M., Taylor R.W. The genetics and pathology of mitochondrial disease. J. Pathol. 2017;241(2):236–250. - PMC - PubMed
    1. Ghosh R., Dubey S., Chatterjee S., Finsterer J., Biswas R., Lahiri D., Ray B.K. Primary hypoparathyroidism and multiple neuraxial involvement in mitochondrial disorder due to the variant m.15043G>A in MT-CYB. J. Neurol. Sci. 2020;414 - PubMed
    1. Gorman G.S., Chinnery P.F., DiMauro S., Hirano M., Koga Y., McFarland R., Suomalainen A., Thorburn D.R., Zeviani M., Turnbull D.M. Mitochondrial diseases. Nat Rev Dis Primers. 2016;2 - PubMed
    1. Lott M.T., Leipzig J.N., Derbeneva O., Xie H.M., Chalkia D., Sarmady M., Procaccio V., Wallace D.C. mtDNA variation and analysis using Mitomap and Mitomaster. Curr. Protoc. Bioinformatics. 2013;44:1.23.1–26. - PMC - PubMed
    1. Richards S., Aziz N., Bale S., Bick D., Das S., Gastier-Foster J., Grody W.W., Hegde M., Lyon E., Spector E., Voelkerding K., Rehm H.L. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. - PMC - PubMed

Substances