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

Pubmed ID: 
1550128
Year: 
1992
Month: 
Apr
Volume: 
50
Issue: 
4
Citation: 
Tatuch Y, Christodoulou J, Feigenbaum A, Clarke JT, Wherret J, Smith C, Rudd N, Petrova-Benedict R, Robinson BH. Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. American Journal of Human Genetics 50 (4) : 852 - 8(1992) PubMed