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Somatic mtDNA variation is an important component of Parkinson's disease.
Coxhead J, Kurzawa-Akanbi M, Hussain R, Pyle A, Chinnery P, Hudson G. Coxhead J, et al. Among authors: chinnery p. Neurobiol Aging. 2016 Feb;38:217.e1-217.e6. doi: 10.1016/j.neurobiolaging.2015.10.036. Epub 2015 Nov 6. Neurobiol Aging. 2016. PMID: 26639157 Free PMC article.
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.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: chinnery pf. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
Nonrandom tissue distribution of mutant mtDNA.
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450
695 results