Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of leigh syndrome

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Ian Holt, A. E. Harding, Richard Petty et al. · PubMed · 1990 · 1K citations

Life Sciences, Genetics, Molecular Genetics +14

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Jack P. Jenuth, Alan C. Peterson, Katherine Fu et al. · Nature Genetics · 1996 · 600 citations

Medicine, Genetics, Molecular Genetics +16

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Y. Tatuch, John Christodoulou, Annette Feigenbaum et al. · PubMed · 1992 · 485 citations

Life Sciences, Genetics, Molecular Genetics +9

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).

Louise Boulet, George Karpati, Eric A. Shoubridge · PubMed · 1992 · 334 citations

Medicine, Genetics, Molecular Genetics +15

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy.

Makoto Yoneda, Anne Chomyn, Andrea Martinuzzi et al. · Proceedings of the National Academy of Sciences · 1992 · 292 citations

Life Sciences, Genetics, Molecular Biology +16