Prevalence of mitochondrial DNA disease in adults
By A. Schaefer, R. Mcfarland, E. Blakely, Langping He, R. Whittaker, Robert W. Taylor, Patrick F. Chinnery, D. Turnbull. Annals of Neurology, 2008
594 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Molecular Biology, Neurology
View Paper: https://www.semanticscholar.org/paper/b99a58292e585e8d55cee377ae5064677e4d109d
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In Molecular Biology
- Dimitra Chalkia
- P. Yu‐Wai‐Man
- Douglas C. Wallace
- Patrick F. Chinnery
- M. Beal
- R. Scarpulla
- Michael T. Lin
Citations in the corpus
- Mitochondrial DNA mutations and human disease. (2010, background): “Estimates from the North East of England suggest that as many as 1 in 10,000 people have clinically manifesting mtDNA disease with a further 1 in 6000 at risk [58].”
- Mitochondrial Energetics and Therapeutics (2010, unknown): “Although mitochondrial diseases had been assumed to be rare, epidemiological studies have concluded that the frequency of mtDNA diseases alone is on the order of 1 in 5000 (8, 9), and known pathogenic mtDNA mutations have been detected in the cord blood of 1 in 200 live births (10).”
- Mitochondrial DNA genetics and the heteroplasmy conundrum in evolution and disease. (2013, background): “Genetic epidemiological studies quantifying only the most common pathogenic mtDNA muta- tions have estimated that the incidence of clinical mitochondrial diseases is about one in 5000 (Schaefer et al. 2004, 2008).”
- Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease (2015, background): “However, given that the point prevalence figures remain stable in the intervening decade in this English cohort, the genetic background and population structure may play a more significant role than study design in creating variability in prevalence rates than originally purported.(3) In addition, t”