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
. 2009 Feb 10;72(6):568-9.
doi: 10.1212/01.wnl.0000342121.91336.4d.

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

R G Whittaker  1 , J K Blackwood, C L Alston, E L Blakely, J L Elson, R McFarland, P F Chinnery, D M Turnbull, R W Taylor
Affiliations

Urine heteroplasmy is the best predictor of clinical outcome in the m.3243A>G mtDNA mutation

R G Whittaker et al. Neurology. .
No abstract available

PubMed Disclaimer

References

    1. Schaefer AM, McFarland R, Blakely EL, et al. Prevalence of mitochondrial DNA disease in adults. Ann Neurol 2008;63:35–39. - PubMed
    1. Macmillan C, Lach B, Shoubridge EA. Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993;43:1586–1590. - PubMed
    1. Rahman S, Poulton J, Marchington D, et al. Decrease of 3243 A>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet 2001;68:238–240. - PMC - PubMed
    1. Chinnery PF, Howell N, Lightowlers RN, et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997;120:1713–1721. - PubMed
    1. Shanske S, Pancrudo J, Kaufmann P, et al. Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A 2004;130A:134–137. - PubMed

Publication types

MeSH terms