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Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: a study across multiple lineages with diagnostic implications
(PLoS, 2017)
Mitochondrial DNA (mtDNA) mutations are well recognized as an important cause of inherited
disease. Diseases caused by mtDNA mutations exhibit a high degree of clinical heterogeneity
with a complex genotype-phenotype ...
Haplogroup context is less important in the penetrance of mitochondrial DNA complex I mutations compared to mt-tRNA mutations
(Springer, 2018)
Mitochondrial diseases are a highly complex, heterogeneous group of disorders. Mitochondrial DNA variants that are linked to disease can exhibit variable expression and penetrance. This has an implication for mitochondrial ...