The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/nrg3966.pdf
Reference127 articles.
1. Wallace, D. C. et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 242, 1427–1430 (1988). Describes the first-identified human pathogenic mtDNA mutation, which was a homoplasmic point mutation in MTND4 . It transpires that this mutation (m.11778A>G) is actually the most common pathogenic mtDNA mutation encountered in clinical practice.
2. Holt, I., Harding, A. E. & Morgan-Hughes, J. A. Deletion of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 331, 717–719 (1988).
3. Gorman, G. S. et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann. Neurol. 77, 753–759 (2015).
4. Chinnery, P. F. et al. Epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol. 48, 188–193 (2000). The first epidemiological study of pathogenic mtDNA mutations, which shows that mtDNA diseases are not exceptionally rare, as previously thought.
5. Di Mauro, S., Schon, E. A., Carelli, V. & Hirano, M. The clinical maze of mitochondrial neurology. Nat. Rev. Neurol. 9, 429–444 (2013).
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