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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: johnson ma. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
Role of mitochondrial DNA mutations in disease and aging.
Cottrell DA, Blakely EL, Borthwick GM, Johnson MA, Taylor GA, Brierley EJ, Ince PG, Turnbull DM. Cottrell DA, et al. Among authors: johnson ma. Ann N Y Acad Sci. 2000 Jun;908:199-207. doi: 10.1111/j.1749-6632.2000.tb06647.x. Ann N Y Acad Sci. 2000. PMID: 10911959 Review.
The epidemiology of pathogenic mitochondrial DNA mutations.
Chinnery PF, Johnson MA, Wardell TM, Singh-Kler R, Hayes C, Brown DT, Taylor RW, Bindoff LA, Turnbull DM. Chinnery PF, et al. Among authors: johnson ma. Ann Neurol. 2000 Aug;48(2):188-93. Ann Neurol. 2000. PMID: 10939569
Mitochondrial DNA mutations in disease and ageing.
Cottrell DA, Blakely EL, Johnson MA, Borthwick GM, Ince PI, Turnbull DM. Cottrell DA, et al. Among authors: johnson ma. Novartis Found Symp. 2001;235:234-43; discussion 243-6. doi: 10.1002/0470868694.ch19. Novartis Found Symp. 2001. PMID: 11280028 Review.
1,706 results