Mitochondrial DNA Missense Mutations ChrMT: 8981A > G and ChrMT: 6268C > T Identified in a Caucasian Female with Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) Triggered by the Epstein–Barr Virus

Authors: Tang-Siegel, Gaoyan G.; Maughan, David W.; Frownfelter, Milah B.; Light, Alan R.

Case Reports in Genetics, 9 May 2024

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Phenotype: ME/CFS, ME/CFS - Fukuda 1994 (CDC) Criteria, Post-exertional malaise (PEM)

MT-ATP6, MT-CO1

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Notes

Based on variants from a case report: "A recent DNA sequence analysis identified missense variants of mitochondrial respiratory chain enzymes, including ATP6 (ChrMT: 8981A > G; Q152R) and Cox1 (ChrMT: 6268C > T; A122V)."