Concepedia

A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa — The NARP syndrome

Flemming Wibrand, Kirsten Baggesen, Thomas Rosenberg, Anja Lisbeth Frederiksen

Gene · 2012 · 40 citations · 16 references

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16

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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Decrease of 3243 A→G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study

Sofia Rahman, Joanna Poulton, Anu Suomalainen · The American Journal of Human Genetics · 2001 · 234 citations · Full text

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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation

S. L. White, Sara Shanske, James McGill et al. · Journal of Inherited Metabolic Disease · 1999 · 111 citations

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Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells

Marilena D’Aurelio, Cristòfol Vives-Bauzá, Mercy M. Davidson et al. · Human Molecular Genetics · 2009 · 94 citations · Full text

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