Concepedia

De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring

M�rH. Tulinius, Massoud Houshmand, Elisabeth Holme, Anders Oldfors, Eva Holmberg, Jan Wahlstr�m

Human Genetics · 1995 · 41 citations · 10 references

DOI

Concepts

References

10

Sequence and organization of the human mitochondrial genome

Stephen K. Anderson, Alan T. Bankier, B. G. Barrell et al. · Nature · 1981 · 9.7K citations

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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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

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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

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The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Filippo M. Santorelli, Sara Shanske, Alfons Macaya et al. · Annals of Neurology · 1993 · 257 citations

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Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.

Ian A. Trounce, Stewart G. Neill, Douglas C. Wallace · Proceedings of the National Academy of Sciences · 1994 · 191 citations · Full text

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